(Q44690579)

5 December 2017

title

Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency (English)

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5 December 2017

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J Kappler

1

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5 December 2017

P Leinekugel

2

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5 December 2017

E Conzelmann

3

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5 December 2017

W J Kleijer

4

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5 December 2017

A Kohlschütter

5

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5 December 2017

T Tønnesen

6

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5 December 2017

M Rochel

7

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5 December 2017

F Freycon

8

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5 December 2017

P Propping

9

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5 December 2017

publication date

1 March 1991

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5 December 2017

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5 December 2017

volume

86

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5 December 2017

issue

5

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5 December 2017

page(s)

463-470

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https://scigraph.springernature.com/pub.10.1007/bf00194634

5 December 2017

exact match

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cites work

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12 December 2020

A simple and novel method for tritium labeling of gangliosides and other sphingolipids

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

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Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

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Preparation of GM1 ganglioside molecular species having homogeneous fatty acid and long chain base moieties

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12 December 2020

A simple chromogenic assay for arylsulfatase A

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12 December 2020

Assay for cerebroside sulfate (sulfatide) sulfatase in cultured skin fibroblasts with the natural activator protein

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12 December 2020

Late-onset metachromatic leukodystrophy: Diagnostic problems elucidated by a case report

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12 December 2020

Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity

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12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

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12 December 2020

A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy

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12 December 2020

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

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12 December 2020

Pseudo arylsulfatase a deficiency: Evidence for a structurally altered enzyme

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12 December 2020

Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy

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12 December 2020

Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver

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12 December 2020

An exceptional case of a family suffering from metachromatic leukocystrophy. Very low level of arylsulfatase A and cerebroside sulfate sulfatase in healthy subjects

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12 December 2020

Molecular basis of different forms of metachromatic leukodystrophy

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12 December 2020

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family

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12 December 2020

Aryl sulfatase A deficiency in psychiatric and neurologic patients

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12 December 2020

Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy

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12 December 2020

The assay of arylsulphatases A and B in human urine

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12 December 2020

Use of esters of N-hydroxysuccinimide in the synthesis of N-acylamino acids

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12 December 2020

Studies on adult metachromatic leukodystrophy. 1. Clinical, morphological and histochemical observations in two cases.

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12 December 2020

Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications

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12 December 2020

A Km mutant of arylsulfatase A

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12 December 2020

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Juvenile metachromatic leukodystrophy. Clinical, biochemical, and neuropathologic studies in nine new cases.

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12 December 2020

Pseudoarylsulfatase-A deficiency in the neurologically impaired patient

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12 December 2020

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

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12 December 2020

Histochemical and biochemical studies of urinary lipids in metachromatic leukodystrophy and Fabry's disease

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12 December 2020

Gangliosides of human, bovine, and rabbit plasma

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12 December 2020

Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases.

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12 December 2020

A simple method for the isolation and purification of total lipides from animal tissues

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12 December 2020

Cloning and expression of human arylsulfatase A

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12 December 2020

Adult-onset metachromatic leucodystrophy presenting without psychiatric symptoms

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12 December 2020

Metachromatic leukodystrophy in the adult: A biochemical study

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12 December 2020

Computed tomography in late-onset metachromatic leucodystrophy

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12 December 2020

An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy

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12 December 2020

Identifiers

DOI

10.1007/BF00194634

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5 December 2017

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