Disorders of amino acid metabolism--1971.

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作者信息

Menkes J H

出版信息

Calif Med. 1971 Oct;115(4):14-23.

PMID:5110588

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1517982/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c461/1517982/f56e9be6afad/califmed00130-0052-a.jpg

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本文引用的文献

PATHOLOGICAL FINDINGS IN HOMOCYSTINURIA.

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HOMOCYSTINURIA: A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY.

Arch Dis Child. 1963 Oct;38(201):425-36. doi: 10.1136/adc.38.201.425.

CITRULLINURIA.

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Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

Lancet. 1962 Oct 6;2(7258):699-700. doi: 10.1016/s0140-6736(62)90508-1.

The early symptoms of phenylketonuria.

Pediatrics. 1961 Mar;27:465-73.

A familial disturbance of histidine metabolism.

N Engl J Med. 1961 Aug 3;265:221-4. doi: 10.1056/NEJM196108032650504.

Maple syrup disease; isolation and identification of organic acids in the urine.

Pediatrics. 1959 Feb;23(2):348-53.

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.

Lancet. 1958 Jan 25;1(7013):182-7. doi: 10.1016/s0140-6736(58)90666-4.

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

Pediatrics. 1954 Nov;14(5):462-7.

The therapy of maple syrup urine disease.

Am J Dis Child. 1967 Jan;113(1):68-73. doi: 10.1001/archpedi.1967.02090160118014.

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