Results 211 to 220 of about 482,563 (236)
Some of the next articles are maybe not open access.

Low bilirubin kernicterus in OTC deficiency

Neuropathology, 2017
openaire   +2 more sources

Partial Ornithine Transcarbamylase (OTC) Deficiency

Indian Journal of Pediatrics
Mugundhakumar Balashanmugam   +6 more
openaire   +2 more sources

Specificity of PCR‐SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency

Journal of Inherited Metabolic Disease, 1993
R, Hoshide   +5 more
openaire   +2 more sources

AN ATYPICAL PRESENTATION OF OTC DEFICIENCY IN AN ADOLESCENT MALE

Critical Care Medicine, 2015
Mark Shlomovich   +3 more
openaire   +1 more source

Severe, Neonatal-Onset OTC Deficiency in Twin Sisters With a De Novo Balanced Reciprocal Translocation t(X;5)(p21.1;q11)

American Journal of Medical Genetics, Part A, 2005
Ina Knerr, André Reis, Martin Zenker
exaly  

Symptoms of OTC Deficiency but Not DMD in a Female Carrier of an Xp21.1 Deletion Including the Genes for Dystrophin and OTC

European Journal of Pediatrics, 2007
Klaus Mohnike   +2 more
exaly  

Genetic Analysis in Nine Unrelated Italian Patients Affected by OTC Deficiency: Detection of Novel Mutations in the OTC Gene

Molecular Genetics and Metabolism, 2002
Simonetta Bisanzi   +2 more
exaly  

Ornithine Transcarbamylase Deficiency (OTC)

2012
openaire   +1 more source

Variability of OTC Deficiency in Heterozygous Carriers: Case Report of a Family

Journal of Pediatric Biochemistry, 2014
Stefan Kolker   +2 more
exaly  

Activity of the Liver Enzyme Ornithine Carbamoyltransferase (OTC) in Blood: LC-MS/MS Assay for Non-Invasive Diagnosis of Ornithine Carbamoyltransferase Deficiency

Clinical Chemistry and Laboratory Medicine, 2017
Viktor Kožich   +2 more
exaly  
ornithine transcarbamylase deficiency
urea cycle disorder
hyperammonemia
otc
late onset
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