Results 101 to 110 of about 148,113 (146)

Lean NAFLD: Do We Need to Lean-in Deeper to Manage it Better? [PDF]

J Clin Exp Hepatol
Acharya P, Roshan A.
europepmc   +1 more source

Nutritional Ketosis as a Therapeutic Approach in Critical Illness: A Systematic Review. [PDF]

Cureus
Abdelrahim RA, Mekala SRR, Polepalli KV, Priyatha V, Ezeano C, AlEdani EM, Nassar ST.   +6 more
europepmc   +1 more source

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Inborn errors of carbohydrate metabolism

Best Practice & Research 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.
Thomas Meissner, Björn Hoffmann, Ertan Mayatepek   +2 more
openaire   +2 more sources

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism

Klinische Wochenschrift, 1979
A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
J. Spranger, Adrian C. Sewell, J. Gehler
openaire   +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 ...
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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
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Genomic variants associated with inborn errors in carbohydrate metabolism in southwestern Colombia

Genetics and Clinical Genomics
Introduction: Carbohydrate Inborn Errors of Metabolism (IEMs) result from disruption of the catabolic or anabolic pathways of different carbohydrates, fructose, galactose and glycogen being the most common and belong to a heterogeneous group of disorders that may be inherited or may occur as a result of spontaneous genetic variants.
Jaime David Viafara Belalcazar, Jose María Satizabal Soto, Lina Johanna Moreno Giraldo   +2 more
openaire   +1 more source

Inborn errors of complex carbohydrate metabolism

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