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UnknownUrinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate.
Not available
S-EPMC5471406 | biostudies-literature
UnknownPhenylketonuria (PKU): A problem solved?
Not available
S-EPMC4789336 | biostudies-literature
UnknownGenetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.
Not available
S-EPMC1234925 | biostudies-literature
UnknownSevere neonatal holocarboxylase synthetase deficiency in west african siblings.
Not available
S-EPMC4375121 | biostudies-literature
UnknownGene expression profiling of astrocytes from hyperammonemic mice reveals altered pathways for water and potassium homeostasis in vivo.
Not available
S-EPMC4116685 | biostudies-literature
UnknownAmmonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate.
Not available
S-EPMC4880058 | biostudies-literature
UnknownNoncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.
Not available
S-EPMC3755569 | biostudies-literature
UnknownA mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
Not available
S-EPMC4878994 | biostudies-literature
UnknownGlycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.
Not available
S-EPMC4382922 | biostudies-literature
UnknownNewborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.
Not available
S-EPMC9036281 | biostudies-literature
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