Results 121 to 130 of about 17,427 (173)

Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes. [PDF]

J Pediatr (Rio J)
Chen L, Lou J, Luo Y, Fang Y, Sun M, Yu J.   +5 more
europepmc   +1 more source

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations. [PDF]

Orphanet J Rare Dis
Handoom B, Alohali E, Elsagher H, Alohali L, Alhamed N, Alabyad W.   +5 more
europepmc   +1 more source

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol. [PDF]

J Inherit Metab Dis
Veiga-da-Cunha M, Gannoun L, Dewulf J, Van Schaftingen E.   +3 more
europepmc   +1 more source

Reconstruction of human metabolic models with large language models. [PDF]

Proc Natl Acad Sci U S A
Luo J, Wang H, Moyer D, Guo Z, Robinson JL, Gustafsson J, Anton M, Chen Y, Kerkhoven EJ, Nielsen J, Li F.   +10 more
europepmc   +1 more source

Chemical diagnosis and metabolic studies for inborn errors of carbohydrate metabolism by GC/MS simultaneous urinary analysis

, 1997
openaire   +1 more source

Inborn Errors of Carbohydrate Metabolism

, 1991
Inborn errors of carbohydrate metabolism can be classified according to the underlying enzyme defect in the following groups: 1. Defects of glycogen degradation (which underlie the glycogen storage diseases) 2. Defects of galactose metabolism 3. Defects of fructose metabolism 4. Defects of pyruvate metabolism
J. Fernandes
exaly   +4 more sources

Inborn errors of complex carbohydrate metabolism

American Journal of Medical Genetics Part A, 1987
J. Spranger, John M. Opitz
exaly   +5 more sources

Inborn Errors of Carbohydrate Metabolism

Liver Disease in Children, 2007
Galactosemia, the inability to metabolize galactose, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. When galactose is not possible to break down, it accumulates in tissues.
Fayez K. Ghishan, Mona Zawaideh
semanticscholar   +3 more sources