Results 151 to 160 of about 115,827,059 (170)

An Adult With Type 2 Citrullinemia Presenting in Europe

New England Journal of Medicine, 2008
Eleonora Paradies, Robin Lachmann, Giuseppe Fiermonte   +2 more
exaly  

Infantile Cholestatic Jaundice Associated With Adult-Onset Type II Citrullinemia

Journal of Pediatrics, 2001
Takeyori Saheki, Daiki Abukawa, Tomotsugu Yasuda   +2 more
exaly  

Increased Urinary Excretion of Argininosuccinate in Type II Citrullinemia

Clinica Chimica Acta, 1987
Takeyori Saheki, Iturô Inoue, Seiji Matuo   +2 more
exaly  

Possible Clinical and Histologic Manifestations of Adult-Onset Type II Citrullinemia in Early Infancy

Journal of Pediatrics, 2001
Takeyori Saheki, Takeshi Tomomasa, Masahiko Kimura   +2 more
exaly  

Investigation of Citrullinemia Type I Variants by in Vitro Expression Studies

Human Mutation, 2008
Johannes Häberle
exaly  

Prenatal Diagnosis of Citrullinemia and Argininosuccinic Aciduria: Evidence for a Transmission Ratio Distortion in Citrullinemia

Prenatal Diagnosis, 2006
Johannes Häberle, Wim J Kleijer, Víctor H Garritsen   +2 more
exaly  

Citrullinemia

Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin, 1978
Jess G Thoene
exaly  

Mutation Spectrum of the ASS1 Gene in Korean Patients With Citrullinemia Type I

Clinical Biochemistry, 2013
Soo-Youn Lee, Chang-Seok Ki, Hye In Woo
exaly  

Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia

Molecular Genetics and Metabolism, 2001
Takeyori Saheki, P Briones, M A Vilaseca
exaly  

Identification of three novel mutations in patients with citrullinemia type 1.

2016
Ünal, Ozlem, KÖSE, ENGİN, Bulbul, Selda, ARSLAN, NUR, Gunduz, Mehmet, Haberle, Johannes   +5 more
openaire   +2 more sources