Results 111 to 120 of about 350 (155)
Italian Journal of PediatricsBackground Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult onset) on the
Gregorio Serra +11 more
doaj +1 more source
Diagnosis of X-Linked creatine transporter deficiency in a patient from Northeast China
, 2015 Background: Creatine transporter (CRTR) deficiency is the most common creatine deficiency syndrome, of which the final diagnosis relies on mutation in the X-linked CRTR gene. To date, more than 90 mutations in the SLC6A8 gene have been reported.
Nurul Nadiah Zainal Abidin
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Participação da mitocôndria na neurotoxicidade induzida por toxicantes endógenos e ambientais em cérebro de roedores [PDF]
, 2012 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-graduação em Bioquímica, Florianópolis, 2010A mitocôndria é a organela responsável pela maior produção líquida de energia na célula. Numerosos
Glaser, Viviane
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Creatine biosynthesis and transport in health and disease
, 2015 International audienceCreatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT].
Dobbelaere, D. +9 more
core +1 more source
Chemical optimization of creatine derivatives for the treatment of creatine transporter deficiency
, 2013 Le déficit en transporteur de la créatine est une maladie rare neurologique dans laquelle la perte de fonctionnalité du transporteur de la créatine (SLC6A8) conduit à une absence de créatine au niveau cérébral et à des retards de développement majeurs ...
Trotier-Faurion, Alexandra
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Plenary Abstracts Session & Oral Presentations
HemaSphere, Volume 10, Issue S1, June 2026.
wiley +1 more source
Síndromas de deficiência de creatina cerebral
, 2011 Trabalho final de mestrado integrado em Medicina área científica de Pediatria, apresentado à Faculdade de Medicina da Universidade de CoimbraAbstract: Creatine deficiency syndromes are a recently discovered group of inborn errors of creatine synthesis or
Malheiro, Rui César Albergaria
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