نتایج جستجو برای: msud
تعداد نتایج: 148 فیلتر نتایج به سال:
Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body. Even when aggressively treated with dietary restriction of BCAA, patients experience long term cognitive, neurological and psychosocial problems. Liver transplantation fro...
BACKGROUND Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup uri...
In Neurospora, a gene not paired with a homolog in prophase I of meiosis generates a signal that transiently silences all sequences homologous to it by a process called meiotic silencing by unpaired DNA (MSUD). Thus a deletion mutation in a heterozygous cross is formally "ascus-dominant" because its unpaired wild-type partner silences itself. We describe in detail the isolation of a mutation, S...
We present a case of a female adult patient with Maple Syrup Urine Disease (MSUD) who had recurrent episodes of raised Branched Chain Amino Acids levels (BCAA). Frequent increases in leucine >1000 μmol/L were associated with vomiting, reduced oral intake and general illness. Her recurrent episodes of vomiting might have been also caused by an oesophageal polyp. Due to poor food intake an eating...
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