患有智力和身体发育迟缓以及结节性脆发病且头发氨基酸组成异常的同胞。 - Suppr

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超能文献

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

作者信息

Pollitt R J, Jenner F A, Davies M

出版信息

Arch Dis Child. 1968 Apr;43(228):211-6. doi: 10.1136/adc.43.228.211.

DOI:10.1136/adc.43.228.211

PMID:5645693

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019837/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f0/2019837/7c9237d26484/archdisch01557-0078-a.jpg

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Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.患有智力和身体发育迟缓以及结节性脆发病且头发氨基酸组成异常的同胞。

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引用本文的文献

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本文引用的文献

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。

Pediatrics. 1962 May;29:764-79.

Argininosuccinic aciduria, an inborn error of amino acid metabolism.精氨琥珀酸尿症，一种氨基酸代谢的先天性疾病。

Arch Dis Child. 1961 Dec;36(190):622-32. doi: 10.1136/adc.36.190.622.

A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID.一种伴有智力和身体发育迟缓的性连锁疾病，其特征为大脑皮质萎缩和脑脊液中谷氨酸增加。

Tohoku J Exp Med. 1964 Aug 25;83:261-9. doi: 10.1620/tjem.83.261.

COPPER DEFICIENCY IN INFANCY.婴儿期铜缺乏症

Pediatrics. 1964 Sep;34:324-36.

[A MULTIDIMENSIONAL TECHNIC FOR THE CHROMATOGRAPHIC IDENTIFICATION OF AMINO ACID].一种用于氨基酸色谱鉴定的多维技术

J Chromatogr. 1963 Nov;12:329-41. doi: 10.1016/s0021-9673(01)83693-1.

Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.精氨基琥珀酸尿症：一种新描述的精神疾病中异常代谢产物的鉴定与反应，以及一些初步的代谢研究

Biochem J. 1960 Oct;77(1):135-44. doi: 10.1042/bj0770135.

Tissue sulfhydryl groups.组织巯基

Arch Biochem Biophys. 1959 May;82(1):70-7. doi: 10.1016/0003-9861(59)90090-6.

A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism.一种可能为遗传性的疾病，其特征为严重智力缺陷和氨基酸代谢持续明显异常。

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

Studies of tocopherol deficiency in infants and children. I. Hemolysis of erythrocytes in hydrogen peroxide.婴幼儿维生素E缺乏症的研究。I. 红细胞在过氧化氢中的溶血作用。

AMA Am J Dis Child. 1955 Dec;90(6):669-81. doi: 10.1001/archpedi.1955.04030010671002.

Arginosuccine aciduria.精氨琥珀酸尿症

Am J Dis Child. 1967 Jan;113(1):162-5.

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