Results 141 to 150 of about 1,894 (150)

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  

EEG Changes During Recovery From Acute Severe Neonatal Citrullinemia

Electroencephalography and Clinical Neurophysiology, 1991
Robert R Clancy, R R Clancy
exaly  

Diagnosis of Citrullinemia Type 1 Carriage After Identification of Mild Citrullinemia on Neonatal Screening

Pediatrics International, 2018
Hiroaki Sato, Ko Ichihashi, Daisuke Sugawara   +2 more
exaly  

Prenatal Diagnosis of Citrullinemia: Elevated Levels of Citrulline in the Amniotic Fluid in the Three Affected Pregnancies

Prenatal Diagnosis, 1984
M F Niermeijer, W Blom, J G M Huijmans
exaly  

Adult-Type Citrullinemia

Acta Neuropathologica, 1989
Riki Okeda
exaly  

Improving the Prenatal Diagnosis of Citrullinemia Using Citrulline/Ornithine+Arginine Ratio in Amniotic Fluid

Prenatal Diagnosis, 2002
P Kamoun, D Rabier, J Bardet
exaly