异染性脑白质营养不良。两例晚发性婴儿型的罕见病例。 - Suppr

Suppr

超能文献

Metachromatic leucodystrophy. Two unusual cases of the late infantile form.

作者信息

Nyberg-Hansen R

出版信息

Z Neurol. 1972;203(2):145-54.

PMID:4119025

Abstract

摘要

相似文献

Metachromatic leucodystrophy. Two unusual cases of the late infantile form.

Z Neurol. 1972;203(2):145-54.

Studies on arylsulfatase-A activity in metachromatic leucodystrophy.

Paediatr Univ Tokyo. 1970 Dec;18:99-104.

Late infantile metachromatic leucodystrophy. Effect of low vitamin A diet.

Arch Dis Child. 1971 Jun;46(247):381-3. doi: 10.1136/adc.46.247.381.

[Familial metachromatic leucodystrophy--arylsulfatase A activity of leukocytes and probable carrier state].

Nihon Shonika Gakkai Zasshi. 1970 Jun;74(6):590-5.

Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.

Arch Neurol. 1972 Jul;27(1):87-90. doi: 10.1001/archneur.1972.00490130089013.

Metachromatic leukodystrophy: ambiguity of heterozygote identification.

Am J Ment Defic. 1973 Jan;77(4):389-94.

Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis.

N Engl J Med. 1971 Sep 30;285(14):785-7. doi: 10.1056/NEJM197109302851407.

Chemical detection of metachromatic leukodystrophy in disease and carrier states.

Am J Dis Child. 1971 Sep;122(3):223-5. doi: 10.1001/archpedi.1971.02110030081008.

The biochemical differentiation between heterozygote carriers of metachromatic leucodystrophy and normal persons.

Neuropadiatrie. 1971 Apr;2(4):461-9. doi: 10.1055/s-0028-1091795.

Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy.

Clin Chim Acta. 1972 Jan;36(1):99-103. doi: 10.1016/0009-8981(72)90163-5.

引用本文的文献

Phenotypic variation between siblings with Metachromatic Leukodystrophy.

Orphanet J Rare Dis. 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6.

The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.

Hum Genet. 1986 Nov;74(3):244-8. doi: 10.1007/BF00282542.

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.

Eur J Pediatr. 1991 Feb;150(4):287-90. doi: 10.1007/BF01955534.

本文引用的文献

[On metachromatic leukodystrophy (Scholz type)].

Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1959;199:386-416. doi: 10.1007/BF00342847.

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

Biochem Biophys Res Commun. 1965 May 3;19:407-11. doi: 10.1016/0006-291x(65)90137-3.

A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM.

J Neurochem. 1963 Dec;10:805-16. doi: 10.1111/j.1471-4159.1963.tb11905.x.

[Two types of cerebroside sulfates as so-called prelipids and storage substances in leukodystrophy of type Scholz (metachromatic form of diffuse sclerosis)].

Hoppe Seylers Z Physiol Chem. 1958;311(4-6):279-82.

Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).

J Neurochem. 1969 Jan;16(1):19-28. doi: 10.1111/j.1471-4159.1969.tb10339.x.

A versatile lithium buffer elution system for single column automatic amino acid chromatography.

J Chromatogr. 1968 Dec 17;38(4):460-6. doi: 10.1016/0021-9673(68)85074-5.

Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Science. 1968 Aug 9;161(3841):594-5. doi: 10.1126/science.161.3841.594.

Cerebroside 3-sulfate as a physiological substrate of arylsulfatase A.

Biochim Biophys Acta. 1968 Mar 25;151(3):619-27. doi: 10.1016/0005-2744(68)90008-9.

Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.

Arch Neurol. 1968 Mar;18(3):225-40. doi: 10.1001/archneur.1968.00470330015001.

Metachromatic leucodystrophy in early childhood. Treatment with a diet deficient in vitamin A.

Acta Paediatr Scand. 1968 Jan;57(1):2-8. doi: 10.1111/j.1651-2227.1968.tb07276.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验