Results 311 to 320 of about 36,711 (394)
Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]
Front PediatrKononets V +7 more
europepmc +1 more source
MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature. [PDF]
Ital J PediatrMaggio MC +5 more
europepmc +1 more source
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The Endocrinologist, 1966
This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
+10 more sources
This volume replaces and expands five-fold the "Appendix on Laboratory Methods" which concluded the single volume of the first edition of Hsia's monograph. The tests described number 123. They are, with few exceptions, of the organic chemical variety and for the most part quantitative in nature.
Victor H. Auerbach, Angelo M. DiGeorge
+10 more sources
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
Brain : a journal of neurology, 2014Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated
H. Peters +8 more
semanticscholar +1 more source
Archives of Internal Medicine, 1962
The potential danger of hemolysis from use of the 8-aminoquinoline antimalarial drug, pamaquine (Plasmoquine), has been known since 1926. 1 Earle, 2 in 1948, reported that pamaquine caused hemolysis in 5%-10% of American Negroes, but rarely in Caucasians.
A. Tarlov +3 more
semanticscholar +1 more source
The potential danger of hemolysis from use of the 8-aminoquinoline antimalarial drug, pamaquine (Plasmoquine), has been known since 1926. 1 Earle, 2 in 1948, reported that pamaquine caused hemolysis in 5%-10% of American Negroes, but rarely in Caucasians.
A. Tarlov +3 more
semanticscholar +1 more source
Annals of Neurology, 1982
AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
William J. L. Cable, Edwin H. Kolodny
openaire +3 more sources
AbstractInborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult‐onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay‐Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux‐Lamy disease.
William J. L. Cable, Edwin H. Kolodny
openaire +3 more sources
Prolidase deficiency: an inborn error of metabolism with major dermatological manifestations.
Dermatologica, 1982Prolidase deficiency is a very rarely reported inborn error of metabolism. It has important and severe dermatological manifestations, especially ulcers of the lower extremities.
D. Vm, Freij Bj, Kurban Ak
semanticscholar +1 more source
2012
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
openaire +3 more sources
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
openaire +3 more sources