Results 91 to 100 of about 2,687 (100)

Inborn Errors of Metabolism with Acidosis

Pediatric Clinics of North America, 2018
Shawn E Mccandless
exaly  

A proposed nosology of inborn errors of metabolism

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

Inborn errors of metabolism and expanded newborn screening: review and update

Critical Reviews in Clinical Laboratory Sciences, 2013
Han-Chih Hencher Lee, Chloe Mak
exaly  

Movement Disorders in Treatable Inborn Errors of Metabolism

Movement Disorders, 2019
Darius Ebrahimi-Fakhari, Alexander Münchau   +1 more
exaly  

Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

Nutrients, 2017
Christel Tran, Tran Christel
exaly  

The Croonian Lectures ON INBORN ERRORS OF METABOLISM.

Lancet, The, 1908
Archibalde Garrod
exaly  

Special Diets for Infants With Inborn Errors of Amino Acid Metabolism

Pediatrics, 1976
Kline O L, Miller Robert W, Mauer Alvin M   +2 more
exaly  

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism

Molecular Genetics & Genomic Medicine
Jirair K Bedoyan
exaly  

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

Cell
Benjamin Izar
exaly  

Inborn Errors of Carbohydrate Metabolism

1991
exaly