Page last updated: 2024-09-05

biotin and Biotinidase Deficiency

biotin has been researched along with Biotinidase Deficiency in 145 studies

Research

Studies (145)

Timeframe	Studies, this research(%)	All Research%
pre-1990	60 (41.38)	18.7374
1990's	1 (0.69)	18.2507
2000's	24 (16.55)	29.6817
2010's	45 (31.03)	24.3611
2020's	15 (10.34)	2.80

Authors

Authors	Studies
Cremonesi, A; Forny, P; Häberle, J; Rüfenacht, V; Wicht, A	1
Akçay, G; Aslan, M; Danışman, B; Derin, N; Munzuroğlu, M; Yelli, İ	1
Batzios, S; Biswas, A; Blaser, S; Gala, F; Gowda, VK; Mankad, K; McNamara, C; Severino, M; Sidpra, J; Striano, P; Sudhakar, S; Vari, MS	1
Elmers, J; Jaccard, E; Superti-Furga, A; Tankeu, AT; Tran, C; Van Winckel, G; Wolf, B	1
Wolf, B	6
Deng, Z; He, H; Hong, Q; Liu, S; Luo, X; Zhang, Y; Zheng, X	1
Bennaoui, F; El Idrissi Slitine, N; El Moussaoui, S; Houcar, O; Maoulainine, FMR	1
Berardesca, E; Fabbrocini, G; Micali, G; Piraccini, BM; Tosti, A	1
Kuroishi, T; Sugawara, S	1
Kellom, ER; Rice, GM; Stepien, KE; Wolf, B	1
Lipner, SR; Waqas, B; Wu, A; Yim, E	1
Ciki, K; Ilter Bahadur, E; Karahan, S; Mete Yesil, A; Ozmert, EN; Sivri, S; Zengin Akkus, P	1
Bassyouni, A; Daher, RT; Karam, PE; Sayegh, LN	1
Khan, AO	1
Sedel, F; Tourbah, A	1
Gow, A; Maheras, KJ; Pindolia, K; Wolf, B	1
Bulut, D; Ceylaner, S; Kor, D; Mungan, NO; Öktem, M; Seker Yilmaz, B; Seydaoglu, G	1
Dulac, O; Guliyeva, S; Guliyeva, U; Khalilov, O; Okur, I	1
León-Del-Río, A	2
Dumin, Y; Hayek, W; Sakran, W; Spiegel, R; Tal, G; Zehavi, Y	1
De Zaeytijd, J; Dermaut, B; Hemelsoet, D; Laureys, G; Sindic, CJM; Sprengers, M; Van Iseghem, V; Willekens, B	1
Bhari, N; Patra, S; Senthilnathan, G	1
Demir, S; Guven, S; Guvendag Guven, ES; Mentese, A; Onder, AB	1
Blume-Peytavi, U; Garcia Bartels, N; Lünnemann, L; Vogt, A	1
Biti, S; Dotsikas, Y; Georgiou, V; Loukas, YL; Molou, E; Papadopoulos, K; Schulpis, KH; Thodi, G	1
Ando, S; Ebara, S; Ishii, Y; Matsui, T; Sawamura, H; Watanabe, T; Yuasa, M	1
Bali, D; Eckhardt, A; Graham, C; Kleinert, J; Millington, DS; Pamula, VK; Sista, RS; Wu, N	1
Heredia-Antúnez, A; Hernández-González, R; Hernández-Vázquez, A; Ibarra-González, I; Ortega-Cuellar, D; Pindolia, K; Velázquez-Arellano, A; Wolf, B	1
Afroze, B; Wasay, M	1
Cardwell, C; Li, H; Pindolia, K; Wolf, B	1
Conway, RL; Feldman, GL; Jay, AM; Nahhas, F; Spencer, L; Wolf, B	1
Cansever, MS; Kiykim, A; Kiykim, E; Zeybek, CA	1
Al-Dirbashi, OY; Chakraborty, P; DiRaimo, J; Gannavarapu, S; Geraghty, MT; Goobie, S; Karaceper, M; Li, L; MacKenzie, J; Munoz, T; Napier, M; Potter, M; Prasad, C; Rupar, CA; Schulze, A	1
Mao, R; Procter, M; Wolf, B	1
Koike, Y; Utani, A	1
Agrawal, A; Agrawal, S; Said, HM	1
Bohl, JA; Cogburn, K; Ghosal, A; Kapadia, R; Lambrecht, NW; Sabui, S; Said, HM	1
Canda, E; Eraslan, C; Gokben, S; Serdaroglu, G; Serin, M; Tekgul, H; Tekin, H; Ucar, SK; Yilmaz, S	1
Al Hassnan, ZN; Ali, A; Chedrawi, AK; Faiyaz-Ul-Haque, M; Wolf, B	1
Akin, R; Arslan, M; Balamtekin, N; Kurt, I; Ozcan, O; Unay, B; Vurucu, S	1
Agrawal, M; Dahiphale, R; Jain, S	1
Cervantes-Roldán, R; González-Noriega, A; Gravel, RA; León-Del-Río, A; Meneses-Morales, I; Pérez-Monjaras, A; Reyes-Carmona, S; Solórzano-Vargas, S	1
CRITTENDEN, PJ; DICKINSON, A	1
DRAGIFF, DA; KARSHAN, M; ZISKIN, DE	1
MILLER, ON; OLSON, RE; STARE, FJ	1
Rathi, M; Rathi, N	1
Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, T; Wang, Y; Ye, J; Zhang, HW; Zhang, YF	1
Guthenberg, C; Holme, E; Ohlsson, A; von Döbeln, U	1
Buyukkayhan, D; Sancaktar, M; Tanzer, F	1
Blitzer, M; Guo, C; Jordan, M; Matthews, N; Mock, DM; Pindolia, K; Strovel, E; Wolf, B	1
Suzuki, Y	1
Murakami, T; Takakura, K; Yamano, T	1
Atici, A; Ezgu, F; Komur, M; Okuyaz, C	1
Campistol, J; Castiñeiras, D; Couce, ML; Fraga, JM; García Cazorla, A; García Silva, MT; Martín-Hernández, E; Navarrete, R; Pérez, B; Pérez-Cerdá, C; Pineda, M; Ugarte, M	1
Pintos-Morell, G	1
Ogundele, MO	1
Ekker, M; Karanth, S; Sarker, PK; Vandenberg, GW; Yossa, R	1
Boysen, G; Horvath, TD; Matthews, NI; Mock, DM; Stratton, SL	1
Said, HM	1
Kuroishi, T; Zempleni, J	1
Bryceson, YT; Chiang, SC; Kardas, F; Kendirci, M; Patiroglu, T; Unal, E	1
Rajendiran, A; Sampath, S	1
Hernández-Vázquez, A; Ibarra-González, I; Ochoa-Ruiz, E; Ortega-Cuellar, D; Salvador-Adriano, A; Velázquez-Arellano, A	1
Lanska, DJ	1
Bakunowicz-Łazarczyk, A; Mrugacz, M	1
Bakunowicz-Łazarczyk, A; Mrugacz, M; Sredzińska-Kita, D	1
TERROINE, T	6
JIROVEC, O; SOSNA, M	1
SERVIGNE, M; TERROINE, T	1
EMMONS, EK; MOAT, AG	1
ALPERN, J; KATSH, S; KOSARICK, E	1
DALGLIESH, CE	1
DELOST, P; TERROINE, T	3
QUEVEDO, WC	1
DUPUIS, R; GIROUD, A; LEFEBVRES, J	1
BALDRIDGE, RC; TOURTELLOTTE, CD	1
COMMUNAL, R	1
NISENSON, A	1
DHYSE, FG; HERTZ, R	1
GRAM, MR; OKEY, R	1
RAVEL, JM; SHIVE, W; SUND, RF	1
BACHHAWAT, BK; COON, MJ; WOESSNER, JF	1
SCOTT, D	1
NUTTING, WB; RAUCH, H	2
COOTS, MC; ELVEHJEM, CA; HARPER, AE	1
BARNES, RH; FIALA, G; KWONG, E	1
Fontana, E; Tatò, L; Zaffanello, M; Zamboni, G; Zoccante, L	1
AHMAD, F; GARG, NK; ROSE, AH	1
NIGEON-DUREUIL, M; RATSIMAMANGA, AR	1
KOSOW, DP; LANE, MD	1
DAKSHINAMURTI, K; MISTRY, SP	3
RAINBOW, C; WOODWARD, JD	1
AHMAD, F; ROSE, AH	1
AHMAD, F; DUNWELL, JL; ROSE, AH	1
GIUFFRIDA, AM	1
WHITAKER, JA	1
KANDLER, O; KAUSS, H	1
WAGLE, SR	1
KERAENEN, AJ; SUOMALAINEN, H	1
CHAN, EC	1
DIXON, B; ROSE, AH	1
DONALDSON, WE	1
CROOM, JA; MCNEILL, JJ; TOVE, SB	1
FISCHER, JE	1
LYS, G; TERROINE, T	1
DAKSHINAMURTI, K; MISTRY, SP; MODI, VV	1
BALL, EG; OXMAN, MN	1
Rastogi, KS	1
Baumgartner, R; Möslinger, D; Mühl, A; Stöckler-Ipsiroglu, S; Suormala, T	1
Bao, XH; Fujita, K; Hanai, J; Hasegawa, Y; He, XJ; Kimura, M; Qian, N; Qin, J; Tagami, Y; Wu, X; Wu, Y; Xiong, H; Yamaguchi, S; Yang, YL; Zhang, YH	1
BISHOP, DW; KOSARICK, E	1
AVCIN, M	1
LEHRER, WP; MOORE, PR; WIESE, AC	1
Coşkun, T; Dursun, A; Kalkanoğlu, HS; Karasimav, D; Tokatli, A; Topaloğlu, H	1
Baumgartner, ER; Scholl, S; Weber, P	1
Duat Rodríguez, A; Martín Reyes, C; Puertas Bordallo, D; Ruiz-Falcó Rojas, ML; Valls Ferrán, MI	1
Fukui, T; Kumasaka, K	1
Ficicioglu, C; Hoffman, TL; Simon, EM	1
Barshop, B; Baykal, T; Blitzer, M; Carlson, M; Chen, TH; Demir, F; Demirkol, M; Gokcay, GH; Goudie, DR; Jensen, KP; Pedro, HF; Quary, S; Shih, LY; Slonim, AE; Wolf, B	1
Chakrapani, A; Hendriksz, CJ; Preece, MA	1
Redondo-Mateo, J; Urbon-Artero, A	1
Baykal, T; Demir, F; Demirkol, M; Gokcay, G; Gokdemir, Y; Jensen, K; Seckin, Y; Wolf, B	1
Aytac, S; Coskun, T; Kalkanoglu, S; Kratz, C; Niemeyer, C; Ortmann, C; Yetgin, S	1
Welling, DB	1
al-Essa, MA; Archibald, A; Joshi, S; Ozand, PT	1

Reviews

10 review(s) available for biotin and Biotinidase Deficiency

Article	Year
Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea. Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia, 2019, Volume: 154, Issue:5 Topics: Alopecia; Biotin; Biotinidase; Biotinidase Deficiency; Dermatitis, Seborrheic; Humans; Skin Diseases	2019
Biotin in metabolism, gene expression, and human disease. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:4 Topics: Amino Acids; Biotin; Biotinidase; Biotinidase Deficiency; Carbon-Carbon Ligases; Gene Expression Regulation; Humans; Infant, Newborn; Metabolism, Inborn Errors; Multiple Carboxylase Deficiency	2019
Biotinidase deficiency and our champagne legacy. Gene, 2016, Sep-10, Volume: 589, Issue:2 Topics: Animals; Biotin; Biotinidase; Biotinidase Deficiency; Disease Models, Animal; Gene Expression; History, 20th Century; History, 21st Century; Humans; Infant, Newborn; Mice; Mutation; Neonatal Screening; Translational Research, Biomedical; United States	2016
Clinical issues and frequent questions about biotinidase deficiency. Molecular genetics and metabolism, 2010, Volume: 100, Issue:1 Topics: Animals; Biotin; Biotinidase Deficiency; Evidence-Based Medicine; False Positive Reactions; Hearing Loss; Humans; Infant, Newborn; Infant, Premature; Lysine; Neonatal Screening; Protein Binding; Specimen Handling	2010
Question 2. What is the incidence of biotin deficiency in preschool children with global developmental delay? Archives of disease in childhood, 2011, Volume: 96, Issue:9 Topics: Biotin; Biotinidase Deficiency; Child, Preschool; Developmental Disabilities; Evidence-Based Medicine; Female; Humans; Incidence; Vitamin B Deficiency	2011
Biotin: biochemical, physiological and clinical aspects. Sub-cellular biochemistry, 2012, Volume: 56 Topics: Animals; Biotin; Biotinidase Deficiency; Female; Humans; Intestinal Absorption; Kidney; Liver; Pregnancy; Vitamin B Deficiency	2012
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have". Genetics in medicine : official journal of the American College of Medical Genetics, 2012, Volume: 14, Issue:6 Topics: Adult; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Diet Therapy; Humans; Infant, Newborn; Mutation; Neonatal Screening	2012
[Biotinidase deficiency and eye]. Klinika oczna, 2002, Volume: 104, Issue:3-4 Topics: Biotin; Biotinidase Deficiency; Eye Diseases; Humans	2002
[Biotin (vitamin H)]. Nihon rinsho. Japanese journal of clinical medicine, 2004, Volume: 62 Suppl 12 Topics: Biological Assay; Biomarkers; Biotin; Biotinidase; Biotinidase Deficiency; Dermatitis, Atopic; Epilepsies, Partial; Humans; Reference Values; Specimen Handling; Valerates	2004
Biotin-dependent regulation of gene expression in human cells. The Journal of nutritional biochemistry, 2005, Volume: 16, Issue:7 Topics: Biotin; Biotinidase Deficiency; Carbon-Nitrogen Ligases; Gene Expression Regulation; Holocarboxylase Synthetase Deficiency; Humans; Symporters	2005

Other Studies

135 other study(ies) available for biotin and Biotinidase Deficiency

Article	Year
Recovery of enzyme activity in biotinidase deficient individuals during early childhood. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Child, Preschool; Genetic Testing; Humans; Infant, Newborn; Mutation; Neonatal Screening	2022
Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2022, 02-25, Volume: 51, Issue:1 Topics: Biotin; Biotinidase Deficiency; Carbon-Nitrogen Ligases; Consensus; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Multiple Carboxylase Deficiency; Neonatal Screening	2022
Effects of biotin deficiency on short term memory: The role of glutamate, glutamic acid, dopamine and protein kinase A. Brain research, 2022, 10-01, Volume: 1792 Topics: Animals; Biotin; Biotinidase Deficiency; Cyclic AMP-Dependent Protein Kinases; Dopamine; Female; Glutamic Acid; Glutamine; Hippocampus; Male; Memory, Short-Term; Pregnancy; Rats; Rats, Wistar	2022
Neuroimaging Features of Biotinidase Deficiency. AJNR. American journal of neuroradiology, 2023, Volume: 44, Issue:3 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Humans; Infant, Newborn; Neonatal Screening; Neuroimaging	2023
Biotinidase deficiency: What have we learned in forty years? Molecular genetics and metabolism, 2023, Volume: 138, Issue:4 Topics: Adult; Biotin; Biotinidase; Biotinidase Deficiency; Child, Preschool; Databases, Factual; Humans; Infant; Infant, Newborn; Neonatal Screening	2023
Letter to the Editor with regards to the article: Biotinidase deficiency in a Newborn. Journal of neonatal-perinatal medicine, 2023, Volume: 16, Issue:2 Topics: Biotin; Biotinidase Deficiency; Humans; Infant, Newborn; Mutation; Neonatal Screening	2023
Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking. International journal of molecular sciences, 2023, Jun-16, Volume: 24, Issue:12 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Humans; Valerates	2023
Biotinidase deficiency in a newborn. Journal of neonatal-perinatal medicine, 2020, Volume: 13, Issue:1 Topics: Age of Onset; Alopecia; Biotin; Biotinidase Deficiency; Consanguinity; Dermatitis, Exfoliative; Eyebrows; Fatal Outcome; Health Services Accessibility; Humans; Ichthyosis; Infant, Newborn; Intensive Care Units, Neonatal; Male; Morocco; Muscle Hypotonia; Myoclonus; Rare Diseases; Vitamin B Complex	2020
Metabolomic Analysis of Liver from Dietary Biotin Deficient Mice. Journal of nutritional science and vitaminology, 2020, Volume: 66, Issue:1 Topics: Amino Acids, Essential; Amino Acids, Sulfur; Animals; Biotin; Biotinidase Deficiency; Diet; Liver; Metabolome; Mice	2020
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society, 2021, 03-01, Volume: 41, Issue:1 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Exome Sequencing; Humans; Male; Middle Aged; Mutation; Optic Atrophy; Vision Disorders; Visual Acuity; Visual Fields; Vitamin B Complex	2021
A survey-based study of physician practices regarding biotin supplementation. The Journal of dermatological treatment, 2022, Volume: 33, Issue:1 Topics: Biotin; Biotinidase Deficiency; Dietary Supplements; Humans; Physicians; Thyroid Function Tests	2022
Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening. European journal of pediatrics, 2021, Volume: 180, Issue:1 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Female; Humans; Infant, Newborn; Mothers; Neonatal Screening	2021
Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon. Clinical biochemistry, 2020, Volume: 86 Topics: Adolescent; Biotin; Biotinidase Deficiency; Child; Child, Preschool; Genetic Association Studies; Humans; Infant; Lebanon; Male; Retrospective Studies; Tertiary Care Centers	2020
Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2021, Volume: 25, Issue:4 Topics: Adolescent; Biotin; Biotinidase; Biotinidase Deficiency; Child; Female; Humans; Optic Atrophy; Vision Disorders	2021
Biotinidase deficiency masquerading as multiple sclerosis? Multiple sclerosis (Houndmills, Basingstoke, England), 2018, Volume: 24, Issue:2 Topics: Amidohydrolases; Biotin; Biotinidase Deficiency; Double-Blind Method; Humans; Multiple Sclerosis	2018
Reply to the letter: Biotinidase deficiency masquerading as multiple sclerosis? Multiple sclerosis (Houndmills, Basingstoke, England), 2018, Volume: 24, Issue:2 Topics: Amidohydrolases; Biotin; Biotinidase Deficiency; Humans; Multiple Sclerosis	2018
Developmental window of sensorineural deafness in biotinidase-deficient mice. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:5 Topics: Animals; Biotin; Biotinidase; Biotinidase Deficiency; Deafness; Diet; Evoked Potentials, Auditory, Brain Stem; Hearing Loss, Sensorineural; Mice; Mice, Inbred C57BL; Mice, Knockout	2017
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. Journal of pediatric endocrinology & metabolism : JPEM, 2018, Mar-28, Volume: 31, Issue:3 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Gene Frequency; Homozygote; Humans; Infant, Newborn; Mutation; Neonatal Screening; Turkey	2018
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. Neuropediatrics, 2018, Volume: 49, Issue:6 Topics: Biotin; Biotinidase Deficiency; Epilepsy; Humans; Infant; Male; Spasms, Infantile; Vitamin B Complex	2018
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. The Israel Medical Association journal : IMAJ, 2019, Volume: 21, Issue:3 Topics: Administration, Oral; Biotin; Biotinidase Deficiency; Humans; Infant; Male; Treatment Outcome; Vitamin B Complex	2019
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults Multiple sclerosis and related disorders, 2019, Volume: 32 Topics: Biotin; Biotinidase Deficiency; Humans; Male; Optic Atrophy; Spinal Cord Diseases; Young Adult	2019
Acrodermatitis enteropathica-like skin eruption with neonatal seizures in a child with biotinidase deficiency. Clinical and experimental dermatology, 2020, Volume: 45, Issue:2 Topics: Acrodermatitis; Alopecia; Biotin; Biotinidase; Biotinidase Deficiency; Child; Humans; Infant, Newborn; Male; Neonatal Screening; Seizures; Skin; Zinc	2020
Biotin deficiency in hyperemesis gravidarum. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology, 2019, Volume: 39, Issue:8 Topics: Adult; Biotin; Biotinidase Deficiency; Female; Gestational Age; Humans; Hyperemesis Gravidarum; Pregnancy; Pregnancy Complications; Risk Factors; Severity of Illness Index	2019
Hair-shaft abnormality in a 7-year-old girl. Trichorrhexis nodosa dueto biotinidase deficiency. JAMA dermatology, 2013, Volume: 149, Issue:3 Topics: Biotin; Biotinidase Deficiency; Child; Female; Hair; Hair Diseases; Humans; Microscopy; Trichothiodystrophy Syndromes	2013
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. Gene, 2013, Jul-25, Volume: 524, Issue:2 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Enzyme Activation; Enzyme Assays; Female; Genome, Human; Greece; Heterozygote; Homozygote; Humans; Incidence; Infant, Newborn; Male; Mutation; Polymerase Chain Reaction	2013
Consumption of a low-carbohydrate and high-fat diet (the ketogenic diet) exaggerates biotin deficiency in mice. Nutrition (Burbank, Los Angeles County, Calif.), 2013, Volume: 29, Issue:10 Topics: Amino Acids, Branched-Chain; Animals; Biological Availability; Biotin; Biotinidase Deficiency; Blood Glucose; Diet, Ketogenic; Dietary Supplements; Gluconeogenesis; Male; Mice; Mice, Inbred ICR; Nutritional Status	2013
Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns. Clinical biochemistry, 2013, Volume: 46, Issue:18 Topics: Biotin; Biotinidase Deficiency; Dried Blood Spot Testing; Enzyme Assays; Fluorometry; Humans; Infant, Newborn; Microfluidics; Neonatal Screening; Umbelliferones	2013
Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder. Molecular genetics and metabolism, 2013, Volume: 110, Issue:3 Topics: Animals; Biotin; Biotinidase Deficiency; Blood Glucose; Body Weight; Carbon; Carnitine; Diet; Disease Models, Animal; Energy Metabolism; Gene Expression; Humans; Liver; Mice; Mice, Knockout; RNA, Messenger	2013
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2013, Volume: 23, Issue:10 Topics: Biotin; Biotinidase Deficiency; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Male; Pakistan; Treatment Outcome	2013
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency. Molecular genetics and metabolism, 2014, Volume: 112, Issue:1 Topics: Animals; Biotin; Biotinidase; Biotinidase Deficiency; CD4-Positive T-Lymphocytes; Disease Models, Animal; Immunity, Cellular; Mice; Mice, Inbred C57BL; Mice, Knockout; Spleen; Thymus Gland	2014
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. Genetics in medicine : official journal of the American College of Medical Genetics, 2015, Volume: 17, Issue:3 Topics: Biotin; Biotinidase; Biotinidase Deficiency; DNA Mutational Analysis; Humans; Infant, Newborn; Michigan; Neonatal Screening; Retrospective Studies; Treatment Outcome; Vitamin B Complex	2015
Biotinidase deficiency mimicking primary immune deficiencies. BMJ case reports, 2015, May-08, Volume: 2015 Topics: Biotin; Biotinidase Deficiency; Candidiasis; Child, Preschool; Consanguinity; Dermatitis; Female; Hearing Loss, Sensorineural; Humans; Mouth Diseases; Recurrence; Respiratory Tract Infections; Turkey	2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). Molecular genetics and metabolism, 2015, Volume: 116, Issue:3 Topics: Alleles; Amidohydrolases; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Disease Management; Female; Genetic Association Studies; Hearing Loss; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Male; Mutation; Neonatal Screening; Ontario; Pilot Projects	2015
Forty-eight novel mutations causing biotinidase deficiency. Molecular genetics and metabolism, 2016, Volume: 117, Issue:3 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Databases, Genetic; DNA Mutational Analysis; Exons; Female; Genotype; Humans; Male; Mutation; Sequence Analysis, DNA	2016
Generalized Hyperkeratotic Plaques in a Baby with a Milk Allergy. Pediatric dermatology, 2016, Volume: 33, Issue:4 Topics: Animals; Biotin; Biotinidase Deficiency; Erythema; Female; Humans; Hyperkeratosis, Epidermolytic; Infant; Milk Hypersensitivity; Skin	2016
Biotin deficiency enhances the inflammatory response of human dendritic cells. American journal of physiology. Cell physiology, 2016, 09-01, Volume: 311, Issue:3 Topics: Biotin; Biotinidase Deficiency; Dendritic Cells; Humans; Inflammation; Interferon-gamma; Interleukin-12 Subunit p40; Interleukin-1beta; Interleukin-23; Lipopolysaccharides; Lymphocyte Activation; Monocytes; Th1 Cells; Th17 Cells; Tumor Necrosis Factor-alpha	2016
Role of the sodium-dependent multivitamin transporter (SMVT) in the maintenance of intestinal mucosal integrity. American journal of physiology. Gastrointestinal and liver physiology, 2016, 09-01, Volume: 311, Issue:3 Topics: Animals; Biotin; Biotinidase Deficiency; Caco-2 Cells; Gene Expression Regulation; Homeostasis; Humans; Intestinal Mucosa; Mice; Mice, Knockout; Permeability; Symporters; Tight Junction Proteins	2016
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:4 Topics: Adolescent; Adult; Biotin; Biotinidase Deficiency; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Surveys and Questionnaires; Treatment Outcome; Young Adult	2017
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency. Metabolic brain disease, 2017, Volume: 32, Issue:3 Topics: Adolescent; Biotin; Biotinidase Deficiency; Diagnosis, Differential; Humans; Male; Neuromyelitis Optica; Spinal Cord Diseases; Treatment Outcome; Vision Disorders	2017
Profound biotinidase deficiency in a child with predominantly spinal cord disease. Journal of child neurology, 2008, Volume: 23, Issue:9 Topics: Biotin; Biotinidase Deficiency; Child, Preschool; DNA Mutational Analysis; Early Diagnosis; Gene Expression Regulation, Enzymologic; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Male; Mutation, Missense; Paraparesis, Tropical Spastic; Spinal Cord; Spinal Cord Diseases; Treatment Outcome	2008
The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid. Brain & development, 2009, Volume: 31, Issue:6 Topics: Alopecia; Animals; Anticonvulsants; Avitaminosis; Biotin; Biotinidase; Biotinidase Deficiency; Dietary Supplements; Dose-Response Relationship, Drug; Down-Regulation; Drug Administration Schedule; Epilepsy; Liver; Male; Rats; Rats, Wistar; Treatment Outcome; Valproic Acid	2009
Biotinidase deficiency. Indian pediatrics, 2008, Volume: 45, Issue:9 Topics: Acidosis; Alopecia; Biotin; Biotinidase Deficiency; Dermatitis, Seborrheic; Epilepsy; Humans; Infant; Male	2008
Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. The Journal of biological chemistry, 2008, Dec-05, Volume: 283, Issue:49 Topics: Amino Acid Sequence; Animals; Base Sequence; Biotin; Biotinidase; Biotinidase Deficiency; Brain; Carbon-Nitrogen Ligases; Cell Culture Techniques; Cyclic GMP; Holocarboxylase Synthetase Deficiency; Humans; Models, Biological; Molecular Sequence Data; Transcription, Genetic	2008
Observations on the biotin deficient rat. Archives internationales de pharmacodynamie et de therapie, 1948, Jul-01, Volume: 77, Issue:1 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Rats	1948
Oral manifestations in rats fed synthetic diets deficient in pantothenic acid and biotin. Journal of dental research, 1948, Volume: 27, Issue:1 Topics: Animals; Biotin; Biotinidase Deficiency; Food, Formulated; Pantothenic Acid; Rats	1948
Effect of biotin-deficiency upon the respiration of cardiac muscle in ducklings. Federation proceedings, 1948, Volume: 7, Issue:1 Pt Topics: Animals; Biotin; Biotinidase Deficiency; Cell Respiration; Ducks; Heart; Humans; Myocardium; Respiration	1948
Biotinidase deficiency with hypertonia as unusual feature. Indian pediatrics, 2009, Volume: 46, Issue:1 Topics: Biotin; Biotinidase Deficiency; Humans; Infant; Male; Muscle Hypertonia; Vitamin B Complex	2009
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Asian People; Base Sequence; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; China; DNA Mutational Analysis; Exons; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Neonatal Screening	2009
Profound biotinidase deficiency: a rare disease among native Swedes. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Adult; Aminoquinolines; Biomarkers; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Dietary Supplements; DNA Mutational Analysis; Dried Blood Spot Testing; Emigrants and Immigrants; Genetic Predisposition to Disease; Genetic Testing; Humans; Incidence; Infant; Infant, Newborn; Mutation; Neonatal Screening; Pedigree; Phenotype; Polymorphism, Genetic; Severity of Illness Index; Substrate Specificity; Sweden; Time Factors; Treatment Outcome	2010
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. Journal of pediatric endocrinology & metabolism : JPEM, 2009, Volume: 22, Issue:12 Topics: Administration, Oral; Biotin; Biotinidase Deficiency; Colorimetry; Developmental Disabilities; Female; Humans; Incidence; Infant, Newborn; Male; Neonatal Screening; Pilot Projects; Turkey; Urban Population; Vitamin B Complex	2009
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Molecular genetics and metabolism, 2011, Volume: 102, Issue:2 Topics: Animals; Behavior, Animal; Biotin; Biotinidase; Biotinidase Deficiency; Body Weight; Diet; Disease Models, Animal; Female; Gene Expression Regulation, Enzymologic; Liver; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Neurocutaneous Syndromes; Vitamin B Complex	2011
[Biotin supplementation at administration of amino acid formulations to infants and young children with food hypersensitivity]. Arerugi = [Allergy], 2010, Volume: 59, Issue:11 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Food Hypersensitivity; Humans; Infant	2010
Evaluation of the probabilistic distribution of dietary biotin intake in Japan using Monte Carlo simulation. Journal of nutritional science and vitaminology, 2010, Volume: 56, Issue:6 Topics: Adolescent; Adult; Aged; Biotin; Biotinidase Deficiency; Diet; Diet Surveys; Female; Humans; Japan; Male; Middle Aged; Models, Biological; Models, Theoretical; Monte Carlo Method; Nutrition Assessment; Young Adult	2010
A girl with spastic tetraparesis associated with biotinidase deficiency. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2011, Volume: 15, Issue:6 Topics: Administration, Oral; Biotin; Biotinidase Deficiency; Brain Edema; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Muscle Spasticity; Quadriplegia; Spinal Cord; Vitamin B Complex	2011
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease]. Medicina clinica, 2011, Oct-22, Volume: 137, Issue:11 Topics: Adolescent; Biotin; Biotinidase; Biotinidase Deficiency; Child, Preschool; Hearing Loss; Humans; Infant; Infant, Newborn; Metabolic Diseases; Mutation; Neonatal Screening; Vitamin B Complex	2011
[Biotinidase deficiency: the two faces of metabolic screening]. Medicina clinica, 2011, Oct-22, Volume: 137, Issue:11 Topics: Biomarkers; Biotin; Biotinidase Deficiency; Humans; Infant, Newborn; Neonatal Screening; Vitamin B Complex	2011
Effects of dietary biotin and avidin on growth, survival, feed conversion, biotin status and gene expression of zebrafish Danio rerio. Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology, 2011, Volume: 160, Issue:4 Topics: Acetyl-CoA Carboxylase; Animals; Avidin; Biotin; Biotinidase Deficiency; Carbon-Carbon Ligases; Fish Diseases; Gene Expression; Methylmalonyl-CoA Decarboxylase; Nutritional Requirements; Weight Gain; Zebrafish	2011
Measurement of 3-hydroxyisovaleric acid in urine from marginally biotin-deficient humans by UPLC-MS/MS. Analytical and bioanalytical chemistry, 2011, Volume: 401, Issue:9 Topics: Adult; Biomarkers; Biotin; Biotinidase Deficiency; Calibration; Chromatography, Liquid; Creatinine; Egg White; Female; Humans; Male; Reference Standards; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry; Valerates	2011
Biotin. Advances in nutrition (Bethesda, Md.), 2012, Mar-01, Volume: 3, Issue:2 Topics: Age Factors; Biotin; Biotinidase Deficiency; Carbon-Nitrogen Ligases; Food; Humans; Nutrition Policy	2012
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency. Pediatric blood & cancer, 2012, Jul-15, Volume: 59, Issue:1 Topics: Biotin; Biotinidase Deficiency; Humans; Infant; Lymphohistiocytosis, Hemophagocytic; Male; Mutation; Vitamin B Complex	2012
Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference! BMJ case reports, 2011, Sep-28, Volume: 2011 Topics: Biotin; Biotinidase Deficiency; Consanguinity; Diagnosis, Differential; Humans; Infant; Male	2011
Temporal development of genetic and metabolic effects of biotin deprivation. A search for the optimum time to study a vitamin deficiency. Molecular genetics and metabolism, 2012, Volume: 107, Issue:3 Topics: Adenosine Monophosphate; Adenosine Triphosphate; AMP-Activated Protein Kinases; Animals; Biomarkers; Biotin; Biotinidase Deficiency; Blood Glucose; Carnitine O-Palmitoyltransferase; Enzyme Activation; Fatty Acid Synthases; Food, Formulated; Gene Expression; Glucokinase; Glucose Transporter Type 4; Insulin; Liver Glycogen; Male; Phosphoenolpyruvate Carboxykinase (ATP); Rats; Rats, Wistar; RNA, Messenger; Time Factors	2012
The discovery of niacin, biotin, and pantothenic acid. Annals of nutrition & metabolism, 2012, Volume: 61, Issue:3 Topics: Animals; Biotin; Biotinidase Deficiency; Dogs; History, 20th Century; Humans; Niacin; Pantothenic Acid; Pellagra; Vitamins	2012
[Biotinidase deficiency--a case report]. Klinika oczna, 2002, Volume: 104, Issue:3-4 Topics: Biotin; Biotinidase Deficiency; Eye Diseases; Female; Humans; Infant; Time Factors; Treatment Outcome	2002
[Effect of methylene blue on the time of appearance of symptoms characteristic of biotin deficiency]. Comptes rendus hebdomadaires des seances de l'Academie des sciences, 1953, Jun-08, Volume: 236, Issue:23 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Methylene Blue	1953
[Protection by ascorbic acid against biotin deficiency in the rat]. Comptes rendus hebdomadaires des seances de l'Academie des sciences, 1953, Oct-28, Volume: 237, Issue:17 Topics: Animals; Ascorbic Acid; Avitaminosis; Biotin; Biotinidase Deficiency; Rats; Vitamins	1953
[Important protection against biotin deficiency by several oxidation-reduction systems]. Archives des sciences physiologiques, 1954, Volume: 8, Issue:2 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Oxidation-Reduction	1954
[Effect of sunlight on certain strains of Protozoa in natural conditions]. Chekhoslovatskaia biologiia, 1954, Volume: 3, Issue:2 Topics: Biotin; Biotinidase Deficiency; Eukaryota; Radiation; Sunlight	1954
[Motor disorders and muscular potassium content of biotin-deficient rats]. Archives des sciences physiologiques, 1954, Volume: 8, Issue:3 Topics: Animals; Biotin; Biotinidase Deficiency; Movement Disorders; Muscles; Nervous System Diseases; Potassium; Rats	1954
The amino acid nutrition of yeast in relationship to biotin deficiency. Journal of bacteriology, 1954, Volume: 68, Issue:6 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Saccharomyces cerevisiae; Yeasts	1954
Effect of biotin deficiency on body and organ growth and accessory reproductive structures in male rats. Growth, 1955, Volume: 19, Issue:2 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Growth; Humans; Inferior Colliculi; Male; Rats; Reproduction; Testis	1955
The relation between thiamine, biotin and tryptophan metabolism, studied in the rat. The Biochemical journal, 1955, Volume: 61, Issue:2 Topics: Animals; Biotin; Biotinidase Deficiency; Rats; Thiamine; Tryptophan; Vitamin B 6 Deficiency; Vitamin B Deficiency	1955
[Study of the pathological modifications of the development of the testes caused by biotin deficiency in the rat]. Comptes rendus des seances de la Societe de biologie et de ses filiales, 1955, Volume: 149, Issue:9-10 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Histological Techniques; Humans; Inferior Colliculi; Male; Rats; Testis	1955
[Inhibitory effects of biotin deficiency on the development of the genital tract of the male rat]. Comptes rendus des seances de la Societe de biologie et de ses filiales, 1955, Volume: 149, Issue:11-12 Topics: Animals; Biotin; Biotinidase Deficiency; Genitalia; Genitalia, Male; Male; Rats; Urogenital System	1955
[Endocrine disorders in biotin deficiency]. Archives des sciences physiologiques, 1956, Volume: 10, Issue:1 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Endocrine Glands; Endocrine System Diseases; Humans	1956
[Various aspects of glucide metabolism in biotin deficiency; in vivo studies]. Archives des sciences physiologiques, 1956, Volume: 10, Issue:1 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Carbohydrate Metabolism; Carbohydrates; Humans	1956
[Biotin content of various rat tissues during the mortal phase of deficiency]. Archives des sciences physiologiques, 1956, Volume: 10, Issue:2 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Rats	1956
Effect of biotin deficiency on follicular melanocytes of mice. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1956, Volume: 93, Issue:2 Topics: Animals; Biotin; Biotinidase Deficiency; Hair; Melanocytes; Mice; Pigmentation	1956
[Nucleic metabolism in biotin deficiency]. Archives des sciences physiologiques, 1956, Volume: 10, Issue:3 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Cell Nucleus; Nucleic Acids	1956
[Biotin deficiency and reproduction in rats]. Comptes rendus des seances de la Societe de biologie et de ses filiales, 1956, Volume: 150, Issue:12 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Congenital Abnormalities; Rats; Reproduction	1956
The metabolism of histidine. I. Effects of vitamin B6 and of biotin deficiency. The Journal of biological chemistry, 1957, Volume: 227, Issue:1 Topics: Biotin; Biotinidase Deficiency; Histidine; Humans; Liver; Vitamin B 6; Vitamin B Deficiency	1957
[Biotin deficiency and subdeficiency; their relation to testicular histopathology in albino rats]. Comptes rendus hebdomadaires des seances de l'Academie des sciences, 1957, Jul-17, Volume: 245, Issue:3 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Male; Rats; Testis	1957
Seborrheic dermatitis of infants and Leiners's disease: a biotin deficiency. The Journal of pediatrics, 1957, Volume: 51, Issue:5 Topics: Biotin; Biotinidase Deficiency; Child; Complement C5; Dermatitis, Exfoliative; Dermatitis, Seborrheic; Hereditary Complement Deficiency Diseases; Humans; Immunologic Deficiency Syndromes; Infant	1957
The effects of actithiazic acid on egg white-induced biotin deficiency and upon the microbial formation of biotin vitamers in the rat. Archives of biochemistry and biophysics, 1958, Volume: 74, Issue:1 Topics: Animals; Anti-Bacterial Agents; Biotin; Biotinidase Deficiency; Caproates; Egg White; Rats; Thiazolidines	1958
Incorporation of acetate-2-C14 into liver and carcass lipids and cholesterol in biotin-deficient rats. The Journal of nutrition, 1958, Feb-10, Volume: 64, Issue:2 Topics: Acetates; Animals; Biotin; Biotinidase Deficiency; Cholesterol; Lipid Metabolism; Lipids; Liver; Rats	1958
Ornithine-citrulline enzyme synthesis in biotin-deficient cells of Streptococcus lactis. The Journal of biological chemistry, 1958, Volume: 231, Issue:2 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Citrulline; Lactococcus lactis; Ornithine; Protein Biosynthesis; Streptococcus	1958
Enzymatic activation of carbon dioxide. II. Role of biotin in the carboxylation of beta-hydroxyisovaleryl coenzyme A. The Journal of biological chemistry, 1958, Volume: 233, Issue:2 Topics: Biotin; Biotinidase Deficiency; Carbon Dioxide; Coenzyme A; Coenzymes	1958
Clinical biotin deficiency (egg white injury); report of a case with some remarks on serum cholesterol. Acta medica Scandinavica, 1958, Sep-05, Volume: 162, Issue:1 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Cholesterol; Egg White; Humans	1958
Biotin deficiency in the hamster. Experientia, 1958, Sep-15, Volume: 14, Issue:10 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Humans	1958
BIOTIN in protein synthesis. Nutrition reviews, 1959, Volume: 17, Issue:1 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Protein Biosynthesis; Proteins	1959
Production of biotin deficiency in the guinea pig. The Journal of nutrition, 1959, Apr-10, Volume: 67, Issue:4 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Guinea Pigs	1959
Effects of the prevention of coprophagy in the rat. IV. Biotin. The Journal of nutrition, 1959, Apr-10, Volume: 67, Issue:4 Topics: Animals; Avitaminosis; Biomedical Research; Biotin; Biotinidase Deficiency; Coprophagia; Feces; Rats	1959
BIOTIN deficiency in hamsters. Nutrition reviews, 1959, Volume: 17, Issue:6 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Skin Physiological Phenomena	1959
BIOTIN and enzyme adaptation. Nutrition reviews, 1959, Volume: 17, Issue:6 Topics: Adaptation, Physiological; Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Liver; Oxidoreductases	1959
A case of partial biotinidase deficiency associated with autism. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence, 2003, Volume: 9, Issue:3 Topics: Autistic Disorder; Biotin; Biotinidase; Biotinidase Deficiency; Child, Preschool; Humans; Male	2003
Effect of biotin deficiency on the synthesis of nucleic acids and protein by Saccharomyces cerevisiae. Journal of general microbiology, 1961, Volume: 24 Topics: Biotin; Biotinidase Deficiency; Nucleic Acids; Proteins; Saccharomyces cerevisiae; Yeasts	1961
The effect of biotin deficiency in Mesocricetus auratus on parasites of the genus Demodex. The Journal of parasitology, 1961, Volume: 47 Topics: Animals; Biotin; Biotinidase Deficiency; Cricetinae; Mesocricetus; Mites; Parasites	1961
[Deficiency of biotin and functioning of the adrenal cortex]. Comptes rendus des seances de la Societe de biologie et de ses filiales, 1960, Volume: 154 Topics: Adrenal Cortex; Avitaminosis; Biotin; Biotinidase Deficiency; Humans	1960
Restoration of biotin-deficiency-induced depression of propionyl carboxylase activity in vivo and in vitro. Biochemical and biophysical research communications, 1961, Feb-24, Volume: 4 Topics: Biotin; Biotinidase Deficiency; Carboxy-Lyases; Depression; Humans; In Vitro Techniques; Lyases	1961
Effect of succinate on amino acid incorporation in biotin deficiency. Biochimica et biophysica acta, 1961, May-27, Volume: 49 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Succinates; Succinic Acid	1961
5-Aminoimidazole and its riboside from biotin-deficient yeast. Journal of general microbiology, 1961, Volume: 25 Topics: Biotin; Biotinidase Deficiency; Imidazoles; Ribose; Yeast, Dried; Yeasts	1961
Effect of biotin-sparing substances on growth of biotin-deficient Saccharomyces cerevisiae and on the synthesis of nucleic acids and protein. Journal of general microbiology, 1962, Volume: 28 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Fatty Acids; Nucleic Acids; Purines; Saccharomyces cerevisiae; Yeasts	1962
Changes in the polysaccharide composition of yeast resulting from biotin deficiency. Biochimica et biophysica acta, 1961, Aug-19, Volume: 51 Topics: Biotin; Biotinidase Deficiency; Polysaccharides; Saccharomyces cerevisiae; Yeasts	1961
[Hepatic arginase activity in biotin deficiency]. Bollettino della Societa italiana di biologia sperimentale, 1962, Jun-15, Volume: 38 Topics: Amidohydrolases; Arginase; Avitaminosis; Biotin; Biotinidase Deficiency; Humans; Liver	1962
Intracellular product accumulation in biotin-restricted yeast. Archives of biochemistry and biophysics, 1962, Volume: 96 Topics: Biotin; Biotinidase Deficiency; Cytoplasm; Saccharomyces cerevisiae; Yeasts	1962
Ascorbic acid synthesis and biotin deficiency. Archives of biochemistry and biophysics, 1962, Volume: 99 Topics: Ascorbic Acid; Biotin; Biotinidase Deficiency	1962
Amino acid incorporation and biotin deficiency. The Journal of biological chemistry, 1963, Volume: 238 Topics: Amino Acids; Biotin; Biotinidase Deficiency; Proteins	1963
[Carbon dioxide assimilation by Ochromonas malhamensis in thiamine and biotin deficiency. II. Photosynthesis]. Archiv fur Mikrobiologie, 1963, Volume: 44 Topics: Biotin; Biotinidase Deficiency; Carbon Dioxide; Eukaryota; Ochromonas; Photosynthesis; Thiamine; Thiamine Deficiency	1963
EFFECTS OF BIOTIN DEFICIENCY ON CARBOHYDRATE METABOLISM. Archives of biochemistry and biophysics, 1963, Volume: 103 Topics: Acetates; Biotin; Biotinidase Deficiency; Carbohydrate Metabolism; Carbon Dioxide; Carbon Isotopes; Glucose; Glycogen; Immune Sera; Insulin; Insulin Antibodies; Propionates; Rats; Research; Vitamin B Deficiency	1963
THE EFFECT OF BIOTIN DEFICIENCY ON THE SYNTHESIS OF FATTY ACIDS BY YEAST. Biochimica et biophysica acta, 1963, Oct-22, Volume: 70 Topics: Aspartic Acid; Biotin; Biotinidase Deficiency; Fatty Acids; Lipid Metabolism; Oleic Acid; Oleic Acids; Palmitic Acid; Research; Saccharomyces	1963
MORPHOLOGICAL ABERRATION OF ARTHROBACTER GLOBIFORMIS CELLS DUE TO BIOTIN DEFICIENCY. Journal of bacteriology, 1964, Volume: 87 Topics: Arthrobacter; Biotin; Biotinidase Deficiency; Canada; Cell Wall; Culture Media; Glucose; Photomicrography; Research; Sucrose	1964
OBSERVATIONS ON THE FINE STRUCTURE OF SACCHAROMYCES CEREVISIAE AS AFFECTED BY BIOTIN DEFICIENCY. Journal of general microbiology, 1964, Volume: 35 Topics: Biotin; Biotinidase Deficiency; Culture Media; Electrons; Lipids; Microscopy; Microscopy, Electron; Research; Saccharomyces; Saccharomyces cerevisiae	1964
IN VIVO INHIBITION OF LIPOGENESIS BY BIOTIN DEFICIENCY. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1964, Volume: 116 Topics: Acetates; Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Carbon Isotopes; Lipid Metabolism; Lipogenesis; Liver; Malonates; Poultry; Research	1964
BIOTIN DEFICIENCY AND THE FATTY ACIDS OF CERTAIN BIOTIN-REQUIRING BACTERIA. Journal of bacteriology, 1964, Volume: 88 Topics: Biotin; Biotinidase Deficiency; Escherichia coli; Fatty Acids; Lactobacillus; Lactobacillus plantarum; Oleic Acids; Pharmacology	1964
Metabolism of beta-methyl-C5 fatty acids by mitochondria of rat liver: effect of biotin nutriture. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1955, Volume: 88, Issue:2 Topics: Animals; Biotin; Biotinidase Deficiency; Butyrates; Caprylates; Fatty Acids; Lipid Metabolism; Liver; Mitochondria; Rats	1955
[Influence of various vitamin deficiencies on 5-nucleotidase activity]. Comptes rendus hebdomadaires des seances de l'Academie des sciences, 1962, Feb-19, Volume: 254 Topics: Ascorbic Acid Deficiency; Avitaminosis; Biotin; Biotinidase Deficiency; DNA; Folic Acid; Folic Acid Deficiency; Humans; Nucleotidases; RNA	1962
Impairment of glucose utilization in biotin deficiency. Archives of biochemistry and biophysics, 1962, Volume: 96 Topics: Biotin; Biotinidase Deficiency; Carbohydrate Metabolism; Glucose; Humans	1962
Studies on the metabolism of adipose tissue. VIII. Alterations produced by biotin deficiency in the rat. Archives of biochemistry and biophysics, 1961, Volume: 95 Topics: Adipose Tissue; Animals; Biotin; Biotinidase Deficiency; Rats	1961
Distribution of serum proteins in biotin-deficient rats. The Journal of nutrition, 1962, Volume: 76 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Blood Proteins; Rats	1962
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. European journal of pediatrics, 2003, Volume: 162 Suppl 1 Topics: Adolescent; Adult; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Electrophoresis; Family; Female; Humans; Infant, Newborn; Intelligence; Male; Molecular Biology; Mutation; Neuropsychological Tests; Treatment Outcome	2003
[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2003, Volume: 41, Issue:4 Topics: Adolescent; Biotin; Biotinidase Deficiency; Child; Child, Preschool; Gas Chromatography-Mass Spectrometry; Humans; Infant; Male; Treatment Outcome	2003
Biotin deficiency and cryptorchidism in rats. Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1951, Volume: 78, Issue:1 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Cryptorchidism; Humans; Male; Rats	1951
[Dermatitis seborrheica and biotin deficiency in infants]. Zdravstveni vestnik, 1952, Volume: 21, Issue:1-2 Topics: Avitaminosis; Biotin; Biotinidase Deficiency; Dermatitis, Seborrheic; Humans	1952
Biotin deficiency in suckling pigs. The Journal of nutrition, 1952, Jun-10, Volume: 47, Issue:2 Topics: Animals; Avitaminosis; Biotin; Biotinidase Deficiency; Sus scrofa; Swine	1952
A boy with spastic paraparesis and dyspnea. Journal of child neurology, 2004, Volume: 19, Issue:5 Topics: Biotin; Biotinidase Deficiency; Child, Preschool; Dyspnea; Humans; Male; Paraparesis, Spastic	2004
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Developmental medicine and child neurology, 2004, Volume: 46, Issue:7 Topics: Adaptation, Psychological; Adolescent; Adult; Biotin; Biotinidase Deficiency; Child; Child, Preschool; Female; Follow-Up Studies; Hearing Disorders; Humans; Infant; Infant, Newborn; Male; Motor Skills Disorders; Neonatal Screening; Optic Atrophy; Outcome Assessment, Health Care; Severity of Illness Index; Social Adjustment; Speech Disorders	2004
[Optic neuropathy in biotinidase deficiency]. Archivos de la Sociedad Espanola de Oftalmologia, 2004, Volume: 79, Issue:8 Topics: Biotin; Biotinidase Deficiency; Child; Fundus Oculi; Humans; Male; Optic Nerve Diseases; Treatment Outcome; Vision Disorders; Visual Acuity; Visual Field Tests	2004
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result. European journal of pediatrics, 2005, Volume: 164, Issue:5 Topics: Acidosis, Lactic; Ataxia; Biotin; Biotinidase Deficiency; Brain; Continuity of Patient Care; Hearing Loss, Bilateral; Hearing Loss, Sensorineural; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Hypertonia; Neonatal Screening; Pakistan; Pennsylvania; Respiratory Sounds; Speech Disorders	2005
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Human mutation, 2005, Volume: 25, Issue:4 Topics: Alleles; Binding Sites; Biotin; Biotinidase; Biotinidase Deficiency; Female; Humans; Infant; Infant, Newborn; Male; Mutation	2005
Successful pregnancy in a treated patient with biotinidase deficiency. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5 Topics: Biotin; Biotinidase; Biotinidase Deficiency; Female; Humans; Infant, Newborn; Mutation; Neonatal Screening; Pregnancy; Pregnancy Complications; Pregnancy Outcome	2005
Facial erythema and onychoschizia. Archives of dermatology, 2005, Volume: 141, Issue:11 Topics: Administration, Oral; Biotin; Biotinidase Deficiency; Child; Diagnosis, Differential; Erythema; Facial Dermatoses; Humans; Male; Nail Diseases	2005
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6 Topics: Adult; Alleles; Biotin; Biotinidase; Biotinidase Deficiency; Child; Child, Preschool; Family Health; Fathers; Female; Genotype; Homozygote; Humans; Male; Mothers; Mutation; Phenotype; Risk; Siblings	2005
Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. Pediatric hematology and oncology, 2007, Volume: 24, Issue:6 Topics: Biotin; Biotinidase Deficiency; Bone Marrow; Consanguinity; Failure to Thrive; Female; Genes, ras; Hepatomegaly; Humans; Infant; Leukemia, Myelomonocytic, Chronic; Splenomegaly	2007
Long-term follow-up of hearing loss in biotinidase deficiency. Journal of child neurology, 2007, Volume: 22, Issue:8 Topics: Biotin; Biotinidase Deficiency; Child; Female; Follow-Up Studies; Hearing Loss, Sensorineural; Humans; Time Factors; Treatment Outcome	2007
Biotinidase deficiency: a treatable genetic disorder in the Saudi population. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6 Topics: Amidohydrolases; Biotin; Biotinidase; Biotinidase Deficiency; Cause of Death; Electroencephalography; Female; Fluorometry; Genes, Recessive; Genetic Testing; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Neonatal Screening; Saudi Arabia; Tomography, X-Ray Computed; Treatment Outcome	1999