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PMID: 4137382 Published · ppublish ger Case Reports English Abstract Journal Article

[Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].

Metachromatische Leukodystrophie: Klinik und intravitale Diagnostik einer familiären adulten Form der metachromatischen Leukodystrophie (MLD)

Journal of neurology ·Vol. 207 ·No. 3 ·1974-00-00 ·Pages 189-204

Czmok E, Regli F, Bischoff A, Harzer K, Benz HU

Abstract

暂无摘要

MeSH Terms
Adult Biopsy Clinical Enzyme Tests Humans Leukocytes/enzymology Leukodystrophy, Metachromatic/diagnosis,enzymology,pathology,urine Male Sulfatases/blood,urine Sulfoglycosphingolipids/urine Sural Nerve/pathology
Chemicals
Sulfoglycosphingolipids Sulfatases
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Czmok E
Regli F
Bischoff A
Harzer K
Benz H U
References (23)
23 references, click to expand
  1. [Histological methods in differential diagnosis of leukodystrophy from lipoidosis].
    Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955;194(1):88-104 PMID: 13303397
  2. Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.
    Arch Neurol. 1968 Mar;18(3):225-40 PMID: 5642751
  3. Studies on adult metachromatic leukodystrophy. 2. Biochemical aspects of adult cases of metachromatic leukodystrophy.
    J Neurol Sci. 1969 Nov-Dec;9(3):585-95 PMID: 5367045
  4. The late form of metachromatic leukodystrophy. I. A histochemical and neurochemical study.
    J Neurol Sci. 1972 Dec;17(4):373-81 PMID: 4117555
  5. Metachromatic leucodystrophy: isolation and chemical analysis of metachromatic granules.
    Science. 1966 Mar 11;151(3715):1231-3 PMID: 4160108
  6. A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.
    J Neurol Neurosurg Psychiatry. 1972 Jun;35(3):360-4 PMID: 4338447
  7. EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).
    Biochem Biophys Res Commun. 1965 May 3;19:407-11 PMID: 14338983
  8. Detection of the carrier state in hereditary coagulation disorders. II.
    Thromb Diath Haemorrh. 1968 Jul 31;19(3):403-22 PMID: 4884702
  9. Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leukodystrophy.
    J Neuropathol Exp Neurol. 1967 Oct;26(4):537-50 PMID: 6053728
  10. [Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding].
    Acta Neuropathol. 1967 May 5;8(3):292-308 PMID: 6032928
  11. Metachromatic reaction of pseudoisocyanine with sulfatides in metachromatic leukodystrophy (MLD). I. Technique of histochemical staining.
    Acta Neuropathol. 1974 Feb 28;27(2):177-80 PMID: 4135170
  12. [Quantitative metachromasia with pseudoisocyanin: a new method for the determination of sulphatides, and for use in the diagnosis of metachromatic leucodystrophy (sulphatide lipidosis) (author's transl)].
    Z Klin Chem Klin Biochem. 1973 Nov;11(11):471-5 PMID: 4804153
  13. [Metachromatic leukodystrophy (sulfatide lipidosis) in adults: intravital diagnosis in two patients with clinical symptoms of presenile atrophy of the brain].
    Z Neurol. 1971;199(3):234-55 PMID: 4104408
  14. The assay of arylsulphatases A and B in human urine.
    Clin Chim Acta. 1959 May;4(3):453-5 PMID: 13663253
  15. Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination.
    Neurology. 1957 Jun;7(6):415-26 PMID: 13430904
  16. Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases.
    J Neurol Sci. 1969 Nov-Dec;9(3):567-84 PMID: 4189441
  17. Inheritance of the enzyme deficiency in three neurolipidoses: variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers.
    Humangenetik. 1973;20(1):9-24 PMID: 4776531
  18. Metachromatic leukodystrophy: diagnosis with samples of venous blood.
    Science. 1968 Aug 9;161(3841):594-5 PMID: 5668537
  19. Metachromatic leukodystrophy: ambiguity of heterozygote identification.
    Am J Ment Defic. 1973 Jan;77(4):389-94 PMID: 4706397
  20. Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
    Arch Neurol. 1966 Mar;14(3):259-69 PMID: 5905074
  21. Metachromatic leukodystrophy in the adult. A biochemical study.
    Neurology. 1972 Mar;22(3):312-20 PMID: 5062266
  22. Metachromatic from of diffuse cerebral sclerosis. II. Diagnosis during life by isolation of metachromatic lipids from urine.
    Neurology. 1957 Oct;7(10):716-23 PMID: 13477349
  23. Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.
    Arch Neurol. 1972 Jul;27(1):87-90 PMID: 5049684
Article Info
Journal
Journal of neurology
Abbr.
J Neurol
ISSN
0340-5354
DOI
10.1007/BF00312560
Published
1974-00-00
Pages
189-204
Language
ger
Region
Germany
NLM ID
0423161
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00312560 View journal details
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