Results 281 to 290 of about 57,504 (328)
3-methylcrotonyl-CoA carboxylase deficiency in a child with developmental regression and delay: call for early diagnosis and multidisciplinary approach. [PDF]
BMJ Case RepGulzar MM, Sarani ZA, Tariq M, Knerr I.
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Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature. [PDF]
BMC PediatrYamashita F +9 more
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A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism
Bender A +11 more
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Journal of the American Medical Association (JAMA), 2023
In this Viewpoint, Lasker Award winner Piet Borst looks back over a 50-year career in scientific research, including work with trypanosomatids, mechanisms of drug resistance in cancer cells, and inborn errors of metabolism.
Piet Borst
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In this Viewpoint, Lasker Award winner Piet Borst looks back over a 50-year career in scientific research, including work with trypanosomatids, mechanisms of drug resistance in cancer cells, and inborn errors of metabolism.
Piet Borst
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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
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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
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Journal of Medical Screening, 2020
Background The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China.
Kui Deng +7 more
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Background The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China.
Kui Deng +7 more
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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
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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