biotin has been researched along with Basal Ganglia Diseases in 28 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (3.57) | 18.2507 |
| 2000's | 6 (21.43) | 29.6817 |
| 2010's | 14 (50.00) | 24.3611 |
| 2020's | 7 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Abdulmotagalli, N; Al-Anezi, A; Hossam El-Din, M; Ibrahim, A; Shalaby, O; Sotirova-Koulli, V; Youssef, R | 1 |
| Alfadhel, M; Alnozha, A; Alsini, H; Asmat, Z; Hundallah, K; Tabarki, B | 1 |
| Maney, K; Pizoli, C; Russ, JB | 1 |
| Abdelaty, O; Aburezq, M; Al-Tawari, A; Alahmad, A; Albash, B; Alsafi, R; Alsharhan, H; Ayed, M; Bastaki, L; Dashti, F; Elshafie, R; Hayat, A; Makhseed, N; Marafi, D; Ramadan, D; Shafik, M | 1 |
| Barshop, BA; McGowan, K; Nyhan, WL | 1 |
| Ceylaner, S; Değerliyurt, A; Gündüz, M; Ünal, Ö; Ünal, S | 1 |
| Dong, R; Gai, Z; Gao, M; Huang, Y; Liu, Y; Lyu, Y; Ma, J; Wang, D; Zhang, K | 1 |
| Kelsch, RD; Krishnan, A; Nolan, DA | 1 |
| Finsterer, J | 1 |
| Cestari, DM; Eichler, FS; Hunt, AL; Rapalino, O; Swoboda, KJ | 1 |
| Albaradie, R; Alhazmi, R; Mir, A | 1 |
| Al Balwi, M; Al Rifai, MT; Al Rumayan, A; Al Shalaan, H; Al-Twaijri, W; Alfadhel, M; Almuntashri, M; Bashiri, FA; Eyaid, W; Jadah, RH | 1 |
| Alsuhibani, S; Farid, T; Kassem, H; Wafaie, A | 1 |
| Endo, F; Hirai, K; Imagawa, E; Kohrogi, K; Matsumoto, N; Migita, M; Mitsubuchi, H; Miyake, N; Muto, Y; Nakamura, K | 1 |
| Alfadhel, M; AlHashem, A; AlShafi, S; AlShahwan, S; Hundallah, K; Tabarki, B | 1 |
| Bindoff, LA; Dölle, C; Flønes, I; Haugarvoll, K; Johansson, S; Jonassen, I; Knappskog, PM; Lykouri, M; Miletic, H; Schwarzlmüller, T; Sztromwasser, P; Tzoulis, C | 1 |
| Bin Saeedan, M; Dogar, MA | 1 |
| Barbaro, M; Eriksson, M; Lesko, N; Naess, K; Stranneheim, H; Wang, C; Wedell, A; Wibom, R; Wickström, R; Ygberg, S | 1 |
| Aljabri, MF; AlQaedi, AM; Arif, M; Kamal, NM; Santali, EYM | 1 |
| El-Hajj, TI; Karam, PE; Mikati, MA | 1 |
| Bindu, PS; Kovoor, JM; Muthane, UB; Nalini, A; Noone, ML | 1 |
| Bellanger, A; Brice, A; Debs, R; Degos, B; Depienne, C; Galanaud, D; Keren, B; Lyon-Caen, O; Rastetter, A; Sedel, F | 1 |
| Hara, K; Ishihara, N; Kumagai, T; Kuwano, R; Miura, K; Nakanishi, K; Suzuki, M; Tsuji, S; Wakamatsu, N; Yamada, K; Yamada, Y | 1 |
| Amir, J; Basel, L; Corie, CI; Djaldetti, R; Harel, L; Kornreich, L; Shorer, Z; Straussberg, R; Weitz, R | 1 |
| Acierno, JS; Al-Yamani, E; Gillis, T; Gusella, JF; MacDonald, ME; Ozand, PT; Slaugenhaupt, S; Zeng, WQ | 1 |
| Marchant, JS; Said, HM; Subramanian, VS | 1 |
| Adhisivam, B; Mahadevan, S; Mahto, D | 1 |
| Al Essa, M; Al Jishi, E; Al Watban, J; Al-Kawi, MZ; Bakheet, S; Dabbagh, O; Gascon, GG; Joshi, S; Ozand, PT | 1 |
3 review(s) available for biotin and Basal Ganglia Diseases
| Article | Year |
|---|---|
Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.
Topics: Adult; Basal Ganglia Diseases; Biotin; Child; Female; Humans; Infant; Magnetic Resonance Imaging; Membrane Transport Proteins; Mutation; Thiamine; Vitamins | 2023 |
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Topics: Adolescent; Adult; Basal Ganglia; Basal Ganglia Diseases; Biotin; Child; Child, Preschool; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Radiography; Thiamine; Wernicke Encephalopathy; Young Adult | 2013 |
Biotin-responsive basal ganglia disease: case report and review of the literature.
Topics: Basal Ganglia Diseases; Biotin; Child, Preschool; Developmental Disabilities; Diagnosis, Differential; Dominance, Cerebral; Dose-Response Relationship, Drug; Electroencephalography; Female; Globus Pallidus; Humans; Magnetic Resonance Imaging; Neurologic Examination | 2008 |
1 trial(s) available for biotin and Basal Ganglia Diseases
| Article | Year |
|---|---|
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone.
Topics: Adolescent; Basal Ganglia Diseases; Biotin; Child; Child, Preschool; Female; Humans; Male; Prospective Studies; Thiamine | 2015 |
24 other study(ies) available for biotin and Basal Ganglia Diseases
| Article | Year |
|---|---|
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.
Topics: Acute Febrile Encephalopathy; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain; Child, Preschool; COVID-19; Genetic Testing; Humans; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; SARS-CoV-2; Thiamine | 2022 |
Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.
Topics: Basal Ganglia Diseases; Biotin; Caudate Nucleus; Dystonia; Humans; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Neuroimaging; Thiamine | 2022 |
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Topics: Adult; Basal Ganglia Diseases; Biotin; Brain Diseases; Child, Preschool; Dysarthria; Dystonia; Humans; Infant, Newborn; Kuwait; Membrane Transport Proteins; Retrospective Studies; Seizures | 2023 |
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease.
Topics: Adult; Basal Ganglia Diseases; Biotin; Female; Humans; Mutation; Phenotype; Thiamin Pyrophosphokinase; Thiamine | 2019 |
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
Topics: Basal Ganglia Diseases; Biotin; Brain; Diagnosis, Differential; DNA Mutational Analysis; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation | 2019 |
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
Topics: Basal Ganglia Diseases; Biotin; Brain; Humans; Infant; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Thiamine | 2020 |
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.
Topics: Basal Ganglia; Basal Ganglia Diseases; Biotin; Child; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Mutation; Thiamine | 2021 |
Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin?
Topics: Basal Ganglia Diseases; Biotin; Humans; Magnetic Resonance Imaging; Membrane Transport Proteins; Thiamine | 2020 |
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
Topics: Basal Ganglia Diseases; Biotin; Brain; Carbidopa; Diagnosis, Differential; Drug Combinations; Dystonia; Female; Humans; Levodopa; Macula Lutea; Magnetic Resonance Imaging; Membrane Transport Proteins; Metabolism, Inborn Errors; Mutation; Optic Nerve; Seizures; Thiamine; Young Adult | 2017 |
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder.
Topics: Basal Ganglia Diseases; Biotin; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Thiamine; Vitamin B Complex | 2018 |
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.
Topics: Basal Ganglia Diseases; Biotin; Brain; Child; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Male; Neuroimaging; Retrospective Studies; Thiamine | 2014 |
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Topics: Basal Ganglia Diseases; Biotin; DNA Mutational Analysis; Exome; Humans; Infant; Male; Membrane Transport Proteins; Molecular Diagnostic Techniques; Mucocutaneous Lymph Node Syndrome | 2015 |
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
Topics: 5' Untranslated Regions; Adolescent; Alleles; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain; Exome; Fatal Outcome; Female; Gene Deletion; Gene Silencing; Genetic Predisposition to Disease; Heterozygote; Humans; Male; Membrane Transport Proteins; Mutation; Phenotype; Promoter Regions, Genetic; Sequence Analysis, DNA; Siblings; Thiamine; Young Adult | 2016 |
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment.
Topics: Basal Ganglia Diseases; Biotin; Brain; Child; Humans; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Riboflavin; Treatment Outcome; Vitamin B Complex | 2016 |
Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
Topics: Basal Ganglia Diseases; Biotin; Diagnosis, Differential; Heterozygote; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Siblings; Thiamine; Vitamin B Complex; White People | 2016 |
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
Topics: Basal Ganglia Diseases; Biotin; Child, Preschool; Genetic Testing; Humans; Male; Membrane Transport Proteins; Mutation; Pedigree; Saudi Arabia; Thiamine; Vitamin B Complex | 2016 |
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood.
Topics: Basal Ganglia Diseases; Biotin; Brain; Child; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Myoclonic Epilepsies, Progressive; Vitamin B Complex | 2009 |
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
Topics: Adult; Basal Ganglia; Basal Ganglia Diseases; Biotin; Brain Diseases, Metabolic; DNA Mutational Analysis; Dystonia; Epilepsy; Europe; Female; Genetic Markers; Genetic Predisposition to Disease; Genotype; Humans; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Portugal; Thiamine; Treatment Outcome; Vitamin B Complex; White People | 2010 |
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
Topics: Adolescent; Adult; Asian People; Basal Ganglia Diseases; Biotin; Brain; Child; Female; Genome-Wide Association Study; Humans; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Mutation; Thiamine; Wernicke Encephalopathy | 2010 |
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
Topics: Basal Ganglia Diseases; Biotin; Child; Child, Preschool; Corpus Striatum; Female; Functional Laterality; Genes, Recessive; Heredodegenerative Disorders, Nervous System; Humans; Infant; Male; Necrosis; Pedigree | 2002 |
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
Topics: Basal Ganglia Diseases; Base Sequence; Biotin; Chromosomes, Human, Pair 2; Female; Genes, Recessive; Humans; Male; Membrane Transport Proteins; Mutation; Pedigree | 2005 |
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
Topics: Amino Acid Sequence; Animals; Basal Ganglia Diseases; Biological Transport; Biotin; Caco-2 Cells; Conserved Sequence; Dogs; Gene Expression Regulation; Glutamic Acid; Glycosylation; Humans; Membrane Transport Proteins; Models, Biological; Molecular Sequence Data; Mutant Proteins; Point Mutation; Protein Transport; RNA, Messenger; Substrate Specificity; Thiamine; Tritium | 2006 |
Biotin responsive limb weakness.
Topics: Basal Ganglia Diseases; Biotin; Child; Eggs; Humans; Magnetic Resonance Imaging; Male; Quadriplegia; Vitamin B Deficiency | 2007 |
Biotin-responsive basal ganglia disease: a novel entity.
Topics: Adolescent; Basal Ganglia Diseases; Biotin; Body Fluids; Brain; Child; Child, Preschool; Female; Humans; Magnetic Resonance Imaging; Male | 1998 |