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biotin and Leigh Disease

biotin has been researched along with Leigh Disease in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19901 (16.67)18.7374
1990's2 (33.33)18.2507
2000's1 (16.67)29.6817
2010's0 (0.00)24.3611
2020's2 (33.33)2.80

Authors

AuthorsStudies
Abdelhak, S; Amati-Bonneau, P; Ben Youssef-Turki, I; Bris, C; Charif, M; Dallali, H; Desquiret-Dumas, V; Drissi, C; Fassatoui, M; Galaï, S; Goudenège, D; Hechmi, M; Kefi, R; Kraoua, I; Lenaers, G; Ouerhani, S; Procaccio, V1
Dong, H; Guan, H; Jin, Y; Kang, L; Li, D; Li, X; Liu, Y; Song, J; Yang, Y; Zhang, Y; Zhou, C1
Dimauro, S; Hirano, M; Kanki, T; López, LC; Naini, A; Quinzii, CM; Rodenburg, RJ; Schuelke, M1
Brismar, J; Dabbagh, O; Gascon, GG; Ozand, PT1
Casado de Frías, E1
Bachmann, C; Baumgartner, ER; Blauenstein, U; Probst, A; Suormala, TM; Vest, M; Wick, H1

Trials

1 trial(s) available for biotin and Leigh Disease

ArticleYear
The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia.
    Brain & development, 1994, Volume: 16 Suppl

    Topics: Amidohydrolases; Biotin; Biotinidase; Brain Diseases; Carbon-Nitrogen Ligases; Child; Child, Preschool; Female; Humans; Infant; Leigh Disease; Ligases; Male; Retrospective Studies; Tomography, X-Ray Computed

1994

Other Studies

5 other study(ies) available for biotin and Leigh Disease

ArticleYear
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
    Bioscience reports, 2022, 09-30, Volume: 42, Issue:9

    Topics: Biotin; Child; DNA, Mitochondrial; High-Throughput Nucleotide Sequencing; Humans; Leigh Disease; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Nucleocytoplasmic Transport Proteins; Thiamine

2022
Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.
    European journal of medical genetics, 2020, Volume: 63, Issue:10

    Topics: Asian People; Biotin; Brain; Brain Diseases; Child, Preschool; DNA, Mitochondrial; Female; High-Throughput Nucleotide Sequencing; Humans; Infant; Ketoglutaric Acids; Leigh Disease; Magnetic Resonance Imaging; Male; Membrane Transport Proteins; Metabolic Diseases; Mitochondrial Membrane Transport Proteins; Thiamin Pyrophosphokinase; Thiamine

2020
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.
    American journal of human genetics, 2006, Volume: 79, Issue:6

    Topics: Alkyl and Aryl Transferases; Biotin; Carnitine; Case-Control Studies; Cells, Cultured; Coenzymes; Fibroblasts; Humans; Infant; Kidney Diseases; Leigh Disease; Muscle Hypotonia; Mutation; Protein Subunits; Riboflavin; Thiamine; Ubiquinone

2006
[Biotinidase deficiency].
    Anales de la Real Academia Nacional de Medicina, 1997, Volume: 114, Issue:4

    Topics: Acyltransferases; Adult; Amidohydrolases; Biotin; Biotinidase; Child; Diagnosis, Differential; Female; Humans; Leigh Disease; Male; Multiple Carboxylase Deficiency

1997
Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.
    Pediatric research, 1989, Volume: 26, Issue:3

    Topics: Amidohydrolases; Biotin; Biotinidase; Brain Diseases, Metabolic; Carboxy-Lyases; Cerebral Cortex; Diagnosis, Differential; Female; Humans; Infant; Kidney; Leigh Disease; Liver; Respiratory Sounds

1989