Resultados da busca - Keow Giak Sim
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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B por Gladys Ho, Atsushi Yonezawa, Satohiro Masuda, Ken‐ichi Inui, Keow Giak Sim, Kevin Carpenter, Rikke Katrine Jentoft Olsen, John J. Mitchell, William J. Rhead, Gregory B. Peters, John Christodoulou
Publicado em 2010Artigo
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Assuntos relacionados
Biochemistry
Biology
Enzyme
Gene
Mutation
Acyl CoA dehydrogenase
Beta oxidation
Cofactor
Compound heterozygosity
Dehydrogenase
Endocrinology
Flavin adenine dinucleotide
Flavin group
Flavin mononucleotide
Gastroenterology
Genetics
Internal medicine
Medicine
Membrane transport protein
Metabolism
Metabolite
Missense mutation
Newborn screening
Pediatrics
Riboflavin
Transporter