Results 171 to 180 of about 3,709 (187)

Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

Neurohospitalist, The, 2019
Michael A Pizzi, Tasneem F Hasan, Paldeep S Atwal   +2 more
exaly  

Prenatal diagnosis of ornithine transcarbamylase deficiency

Prenatal Diagnosis, 1999
openaire   +2 more sources

PRENATAL EXCLUSION OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY BY DIRECT GENE ANALYSIS

Lancet, The, 1985
J M Old, B Wilcken, P Pearson
exaly  

Ornithine Transcarbamylase Deficiency: A Case Report

Neuropediatrics, 1998
Paul D Griffiths
exaly  

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

American Journal of Medical Genetics Part A, 1995
Mendel Tuchman, Arnold Munnich, Sue Malcolm   +2 more
exaly  

CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report

Neuroradiology, 1996
Schuierer G
exaly  

The Diagnosis of Ornithine Transcarbamylase Deficiency

Journal of Pediatric Gastroenterology and Nutrition, 1985
  +5 more sources

A case of ornithine transcarbamylase deficiency with rett syndrome manifestations

American Journal of Medical Genetics Part A, 1986
Susan L Hyman, Mark L Batshaw, M L Batshaw   +2 more
exaly  

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

FIRE Forum for International Research in Education, 2018
Laura E Larovere, Silene M Silvera-Ruiz, Raquel Dodelson De Kremer   +2 more
exaly  

Partial Ornithine Transcarbamylase (OTC) Deficiency

Indian Journal of Pediatrics
Mugundhakumar Balashanmugam, Daisy Khera, Ashwini Chityala, Lokesh Kumar, Mahesh Maddimani, Sarbesh Tiwari, Lokesh Saini   +6 more
openaire   +2 more sources