Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency
Open Access
- 1 October 1963
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 38 (201), 425-436
- https://doi.org/10.1136/adc.38.201.425
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Ion-exchange chromatography of some uncommon amino acidsJournal of Chromatography A, 1962
- Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern IrelandArchives of Disease in Childhood, 1962
- Histidinemia: A deficiency in histidase resulting in the urinary excretion of histidine and of imidazolepyruvic acidThe Journal of Pediatrics, 1962
- Studies in Maple Syrup Urine DiseaseArchives of Disease in Childhood, 1961
- The Serum Leucine Aminopeptidase TestBMJ, 1960
- CYSTATHIONINURIAAnnals of Human Genetics, 1959
- A DISEASE, PROBABLY HEREDITARY, CHARACTERISED BY SEVERE MENTAL DEFICIENCY AND A CONSTANT GROSS ABNORMALITY OF AMINOACID METABOLISMThe Lancet, 1958
- HEREDITARY PELLAGRA-LIKE SKIN RASH WITH TEMPORARY CEREBELLAR ATAXIA, CONSTANT RENAL AMINO-ACIDURIA, AND OTHER BIZARRE BIOCHEMICAL FEATURESThe Lancet, 1956
- STUDIES ON THE TREATMENT OF CYSTINURIA1BJU International, 1955
- The Pathogenesis of Cystinuria. II. Polarographic Studies of the Metabolism of Sulphur-Containing Amino-AcidsJCI Insight, 1954