In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]
Shuichi Yamaguchi
openalex +1 more source
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. [PDF]
Peter T. Clayton+5 more
openalex +1 more source
ACP Broadsheet 120: January 1989. Guide to diagnosis of inborn errors of metabolism in district general hospitals. [PDF]
A Green
openalex +1 more source
INBORN ERRORS OF UREAGENESIS; RESULTS OF THERAPY IN 44 PATIENTS [PDF]
Saul W. Brusilow
openalex +1 more source
An Inborn Error of Potassium Metabolism in the Tomato, Lycopersicon esculentum
Emanuel Epstein
openalex +2 more sources
The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
J. B. Holton
openalex +1 more source
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]
Clarke, Aileen+7 more
core +2 more sources
Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?
Shiro Hayashi+4 more
openalex +2 more sources
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]
Marie S. Buchmann+6 more
openalex +1 more source