Vitamin-Dependent Genetic Disorders of Childhood

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central

(2020) Pembe Soylu Ustkoyuncu et al.   Journal of Clinical Research in Pediatric Endocrinology

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

(2020) Signe Mosegaard et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

(2020) Curtis R. Coughlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

(2019) Curtis R. Coughlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disorders affecting vitamin B 6 metabolism

(2019) Matthew P. Wilson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biotin in metabolism, gene expression, and human disease

(2019) Alfonso León‐Del‐Río   JOURNAL OF INHERITED METABOLIC DISEASE

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies

(2019) Anna Marcé‐Grau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

B Vitamins in the nervous system: Current knowledge of the biochemical modes of action and synergies of thiamine, pyridoxine, and cobalamin

(2019) Carlos Alberto Calderón‐Ospina et al.   CNS Neuroscience & Therapeutics

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

(2018) Ian R. Woodcock et al.   Seminars in Pediatric Neurology

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

(2017) Penelope Hogarth et al.   MOLECULAR GENETICS AND METABOLISM

Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review

(2016) Sahan P. Semasinghe Bandaralage et al.   PEDIATRIC RADIOLOGY

B Vitamins and the Brain: Mechanisms, Dose and Efficacy—A Review

(2016) David Kennedy   Nutrients

Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia

(2014) Sanjib Sinha et al.   Annals of Indian Academy of Neurology