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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

3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]

BMJ Case Rep
Gulzar MM, Sarani ZA, Tariq M, Knerr I.
europepmc   +1 more source

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Inborn errors of carbohydrate metabolism

Bailliere's Best Practice and Research in Clinical Gastroenterology, 2010
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical symptoms, diagnosis and treatment.
Ertan Mayatepek, Thomas Meissner
exaly   +3 more sources

Inborn Errors of Carbohydrate Metabolism

1998
Many disorders of carbohydrate metabolism have an inherited, molecular basis,1 but do not necessarily present in the perinatal period. This chapter discusses disorders that involve monosaccharide metabolism, intermediary metabolism, and glycogen metabolism, and is modified from a prior detailed evaluation.1 Most disorders are clinically apparent by ...
Schwartz Robert
exaly   +2 more sources

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
exaly   +2 more sources

Inborn Errors of Carbohydrate Metabolism

Diabetes, 1961
Hsia David Yi-Yung
exaly   +3 more sources

Inborn errors of complex carbohydrate metabolism

American Journal of Medical Genetics Part A, 1987
J. Spranger, John M. Opitz
exaly   +3 more sources

Metabolic Disorders: Inborn Errors of Carbohydrate Metabolism

DeckerMed Medicine, 2019
The small molecule diseases include the inborn errors of carbohydrate, ammonia, amino acid, organic acid, and fatty acid metabolism. They are central to the cohort of biochemical genetic diseases that are often associated with catastrophic presentations and life-threatening illness during infancy and childhood.
Gerald T Berry, Sameer S Chopra
openaire   +1 more source