نتایج جستجو برای: citrullinemia
تعداد نتایج: 234 فیلتر نتایج به سال:
In February 1999, Massachusetts introduced expanded newborn screening for 20 rare metabolic disorders by MS/MS. Medium chain acyl-CoA dehydrogenase deficiency (MCADD) was mandated, in addition to 9 previously screened disorders, while the remaining 19 were offered as an optional pilot. Approximately 98% of parents have elected to participate in the optional program. Maine added MCAD in Septembe...
Citrin is the liver-type mitochondrial aspartate-glutamate carrier that participates in urea, protein, and nucleotide biosynthetic pathways by supplying aspartate from mitochondria to the cytosol. Citrin also plays a role in transporting cytosolic NADH reducing equivalents into mitochondria as a component of the malate-aspartate shuttle. In humans, loss-of-function mutations in the SLC25A13 gen...
Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in permanent neurologic sequelae. Vomiting in patients with urea cycle disorders may either be the result or cause of acute hyperammonemia, particula...
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