Page last updated: 2024-09-05

biotin and Carboxylase Deficiency, Multiple, Neonatal Form

biotin has been researched along with Carboxylase Deficiency, Multiple, Neonatal Form in 25 studies

Research

Studies (25)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	11 (44.00)	29.6817
2010's	5 (20.00)	24.3611
2020's	9 (36.00)	2.80

Authors

Authors	Studies
Kuroishi, T; Li, Y; Sadri, M; Wang, H; Zempleni, J	1
Chen, J; Gu, Y; Liu, H; Tang, J; Wei, R; Yang, Y; Yao, Z; Zhang, J; Zhang, Z	1
Chen, T; Gu, X; Han, L; Liang, L; Ling, S; Lu, D; Qiu, W; Wang, Y; Zhan, X; Zhang, H	1
Jiang, YL; Li, KY; Tang, JP; Wei, Z; Wen, R; Yue, SZ; Zhou, B; Zhou, ZT	1
Luo, X; Xiong, Z; Zhang, G; Zhang, N; Zheng, J	1
Chao, MC; Chen, KJ; Hsiao, HP; Wu, HR	1
Aamir, M; Bibi, A; Fatima, S	1
Cadieux-Dion, M; Gannon, J; Heese, B; Jenkins, J; Newell, B; Nopper, AJ; Saunders, C	1
Lopez-Marin, L	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
Barshop, BA; Cervantes-Roldán, R; Chiang, PW; Freehauf, C; Josefsberg, S; León-Del-Río, A; Meneses-Morales, I; Mock, DM; Spector, E; Thomas, JA; Thuy, le P; Van Hove, JL; Woontner, M	1
Ito, T; Kurono, Y; Maeda, Y; Nakajima, Y; Sugiyama, N; Togari, H; Yokoi, K	1
Barshop, BA; Gangoiti, J; Nyhan, WL; Willis, M	1
Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, T; Wang, Y; Ye, J; Zhang, HW; Zhang, YF	1
Janklat, S; Shotelersuk, V; Suphapeetiporn, K; Tammachote, R; Tongkobpetch, S	1
Bailey, LM; Booker, GW; Mayende, L; Polyak, SW; Soares da Costa, TP; Swift, RD; Wallace, JC	1
Esaki, S; Malkaram, SA; Zempleni, J	1
Pestinger, V; Rios-Avila, L; Zempleni, J	1
Boneh, A; Ciani, F; Donati, MA; Funghini, S; Malvagia, S; Morrone, A; Pasquini, E; Pela, I; Peters, H; Zammarchi, E	1
Aoki, Y; Baumgartner, ER; Duran, M; Muhle, H; Santer, R; Stephani, U; Suormala, T; Suzuki, Y; Yang, X	1
Cervantes-Roldán, R; Gravel, RA; León-Del-Río, A; Pacheco-Alvarez, D; Solórzano-Vargas, RS; Velázquez, A	1
León-Del-Río, A	1
Baumgartner, ER; Darlow, BA; Kirby, DM; Myer, M; Stanley, T; Thomson, G; Thorburn, DR; Wilson, CJ	1
Bailey, LM; Ivanov, RA; Jitrapakdee, S; Polyak, SW; Wallace, JC; Wilson, CJ	1

Reviews

4 review(s) available for biotin and Carboxylase Deficiency, Multiple, Neonatal Form

Article	Year
Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency. The Journal of dermatology, 2023, Volume: 50, Issue:3 Topics: Biotin; Child; Dermatitis, Exfoliative; Holocarboxylase Synthetase Deficiency; Humans; Male; Psoriasis	2023
Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review. Journal of pediatric endocrinology & metabolism : JPEM, 2020, Nov-26, Volume: 33, Issue:11 Topics: Acidosis; Biotin; Carbon-Nitrogen Ligases; Child; Female; Glucose; Holocarboxylase Synthetase Deficiency; Homeostasis; Humans; Hypoglycemia; Infant; Mutation, Missense; Prognosis; Taiwan	2020
[Metabolic approach in epileptic encephalopathies in infants]. Revista de neurologia, 2017, May-17, Volume: 64, Issue:s03 Topics: Age of Onset; Biotin; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Child, Preschool; Creatine; Diagnostic Techniques, Neurological; Epilepsy; Fetal Diseases; Holocarboxylase Synthetase Deficiency; Humans; Hypoxia-Ischemia, Brain; Infant; Infant, Newborn; Pyridoxaminephosphate Oxidase; Pyridoxine; Seizures	2017
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

21 other study(ies) available for biotin and Carboxylase Deficiency, Multiple, Neonatal Form

Article	Year
Holocarboxylase synthetase knockout is embryonic lethal in mice. PloS one, 2022, Volume: 17, Issue:4 Topics: Animals; Biotin; Biotinylation; Carbon-Nitrogen Ligases; Genes, Lethal; Holocarboxylase Synthetase Deficiency; Humans; Mice; Mice, Inbred C57BL; Mice, Knockout; Tamoxifen	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
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet journal of rare diseases, 2023, 03-08, Volume: 18, Issue:1 Topics: Asian People; Biotin; East Asian People; Holocarboxylase Synthetase Deficiency; Humans; Retrospective Studies	2023
[Holocarboxylase synthetase deficiency induced by Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2023, Apr-15, Volume: 25, Issue:4 Topics: Biotin; Holocarboxylase Synthetase Deficiency; Homozygote; Humans; Infant; Male; Mutation; Rare Diseases	2023
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients. Medicine, 2020, Volume: 99, Issue:18 Topics: Acidosis; Biotin; China; Dyspnea; Female; Holocarboxylase Synthetase Deficiency; Humans; Hyperglycemia; Infant; Male	2020
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2021, Volume: 31, Issue:1 Topics: Acidosis; Biotin; Child; Female; Holocarboxylase Synthetase Deficiency; Humans; Multiple Carboxylase Deficiency; Seizures	2021
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings. Pediatric dermatology, 2021, Volume: 38, Issue:3 Topics: Biotin; Delayed Diagnosis; Holocarboxylase Synthetase Deficiency; Humans; Ichthyosis; Seizures	2021
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
Management of a patient with holocarboxylase synthetase deficiency. Molecular genetics and metabolism, 2008, Volume: 95, Issue:4 Topics: Amino Acid Sequence; Biotin; Carbon-Nitrogen Ligases; Cells, Cultured; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Kinetics; Molecular Sequence Data; Mutation; Sequence Alignment	2008
A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy. Brain & development, 2009, Volume: 31, Issue:10 Topics: Acetylcarnitine; Biotin; Carnitine; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Japan; Multiple Carboxylase Deficiency; Mutation; Pregnancy; Prenatal Diagnosis; Prenatal Exposure Delayed Effects	2009
Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency. Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1 Topics: Adult; Biotin; Carnitine; False Positive Reactions; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Male; Maternal-Fetal Exchange; Neonatal Screening; Pregnancy; Pregnancy Complications; Valerates	2009
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2009, Volume: 11, Issue:8 Topics: Biotin; Biotinidase; Carbon-Nitrogen Ligases; Child, Preschool; Female; Holocarboxylase Synthetase Deficiency; Humans; Infant; Infant, Newborn; Male; Mutation	2009
Holocarboxylase synthetase deficiency: novel clinical and molecular findings. Clinical genetics, 2010, Volume: 78, Issue:1 Topics: Biotin; Child; Child, Preschool; DNA Mutational Analysis; Female; Haplotypes; Holocarboxylase Synthetase Deficiency; Humans; Infant; Male; Point Mutation; Thailand	2010
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency. Journal of molecular medicine (Berlin, Germany), 2012, Volume: 90, Issue:1 Topics: Biotin; Carbon-Nitrogen Ligases; Holocarboxylase Synthetase Deficiency; Humans; Protein Binding; Protein Interaction Mapping; Pyruvate Carboxylase; Recombinant Proteins	2012
Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis. European journal of human genetics : EJHG, 2012, Volume: 20, Issue:4 Topics: Amino Acid Sequence; Biotin; Carbon-Nitrogen Ligases; Catalysis; Genotype; Holocarboxylase Synthetase Deficiency; Humans; Mutation; Polymorphism, Single Nucleotide	2012
K16-biotinylated histone H4 is overrepresented in repeat regions and participates in the repression of transcriptionally competent genes in human Jurkat lymphoid cells. The Journal of nutritional biochemistry, 2012, Volume: 23, Issue:12 Topics: Animals; Antibody Specificity; Biotin; Carbon-Nitrogen Ligases; Centromere; Chromatin; Chromatin Immunoprecipitation; Epigenetic Repression; Gene Expression Regulation; Histones; Holocarboxylase Synthetase Deficiency; Humans; Jurkat Cells; Lysine; Promoter Regions, Genetic; Rabbits; Repetitive Sequences, Nucleic Acid; Symporters; Terminal Repeat Sequences	2012
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. American journal of medical genetics, 2002, Jul-22, Volume: 111, Issue:1 Topics: Acidosis; Acids; Age of Onset; Amino Acid Substitution; Binding Sites; Biotin; Biotinylation; Carbon-Nitrogen Ligases; Cells, Cultured; DNA Mutational Analysis; DNA, Complementary; Exons; Fatal Outcome; Genes; Genes, Recessive; Genotype; Holocarboxylase Synthetase Deficiency; Humans; Infant; Intellectual Disability; Introns; Male; Mutation, Missense; Phenotype; Protein Structure, Tertiary; Restriction Mapping; Skin; Substrate Specificity	2002
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Molecular genetics and metabolism, 2003, Volume: 79, Issue:3 Topics: Age of Onset; Biotin; Carbon-Carbon Ligases; Carbon-Nitrogen Ligases; Child; DNA Mutational Analysis; Female; Genes, Recessive; Holocarboxylase Synthetase Deficiency; Humans; Methylmalonyl-CoA Decarboxylase; Mutation; Phenotype; Pyruvate Carboxylase; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing; Valerates	2003
Paradoxical regulation of biotin utilization in brain and liver and implications for inherited multiple carboxylase deficiency. The Journal of biological chemistry, 2004, Dec-10, Volume: 279, Issue:50 Topics: Animals; Base Sequence; Biotin; Brain; Carbon-Nitrogen Ligases; Cell Line; DNA, Complementary; Holocarboxylase Synthetase Deficiency; Humans; Liver; Male; Multiple Carboxylase Deficiency; Rats; Rats, Wistar; RNA, Messenger; Tissue Distribution	2004
Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. The Journal of pediatrics, 2005, Volume: 147, Issue:1 Topics: Australia; Biotin; Central Nervous System Cysts; Drug Resistance; Ependyma; Fatal Outcome; Fetal Growth Retardation; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; New Zealand; Samoa; Ultrasonography	2005
Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. Human mutation, 2008, Volume: 29, Issue:6 Topics: Biotin; Carbon-Nitrogen Ligases; Cells, Cultured; Female; Fibroblasts; Half-Life; Holocarboxylase Synthetase Deficiency; Humans; Infant, Newborn; Male; Pedigree; Samoa	2008