Results 291 to 300 of about 2,125,068 (305)

Xanthinuria, an Inborn Error (or Deviation) of Metabolism.

Lancet, The, 1954
C E Dent, C E Dent
exaly  

Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

New England Journal of Medicine, 2003
Bridget Wilcken, Kevin Carpenter, Veronica Wiley   +2 more
exaly  

Treatment of Episodic Hyperammonemia in Children With Inborn Errors of Urea Synthesis

New England Journal of Medicine, 1984
Mark L Batshaw, Saul W Brusilow, S W Brusilow   +2 more
exaly  

New Pathways of Nitrogen Excretion in Inborn Errors of Urea Synthesis.

Lancet, The, 1979
S W Brusilow
exaly  

Screening for Inborn Errors of Purine Synthesis.

Lancet, The, 1989
Georges van den Berghe, G van den Berghe
exaly  

Inborn Errors of Metabolism and Expanded Newborn Screening: Review and Update

Critical Reviews in Clinical Laboratory Sciences, 2013
Han-Chih Hencher Lee, Chloe Miu Mak, Albert Yan-Wo Chan   +2 more
exaly  

A Proposed Nosology of Inborn Errors of Metabolism

Genetics in Medicine, 2019
Carlos R Ferreira, Jerry Vockley, Nenad Blau   +2 more
exaly  

Trimethylaminuria (Fish-Odour Syndrome): An Inborn Error of Oxidative Metabolism.

Lancet, The, 1987
Jeff Idle, M Al-Waiz, S C Mitchell
exaly  

The porphyrias as inborn errors of metabolism

The American Journal of Medicine, 1957
openaire   +2 more sources

Inborn Errors of Bilirubin Metabolism

Medical Clinics of North America, 1975
P D, Berk, A W, Wolkoff, N I, Berlin
openaire   +2 more sources