I-cell disease (mucolipidosis II):a report on its pathology (Q39079635)

8 September 2017

I-cell disease (mucolipidosis II):a report on its pathology (English)

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4 October 2022

author name string

J. J. Martin

1

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4 October 2022

J. G. Leroy

2

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4 October 2022

J. P. Farriaux

3

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4 October 2022

G. Fontaine

4

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4 October 2022

R. J. Desnick

5

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4 October 2022

A. Cabello

6

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4 October 2022

language of work or name

English

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National Center for Biotechnology Information

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4 October 2022

publication date

1 December 1975

1 reference

8 September 2017

30 December 1975

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National Center for Biotechnology Information

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4 October 2022

published in

Acta Neuropathologica

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8 September 2017

33

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8 September 2017

4

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8 September 2017

285-305

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https://scigraph.springernature.com/pub.10.1007/bf00686161

8 September 2017

0 references

cites work

"I-cell" disease: leakage of lysosomal enzymes into extracellular fluids

1 reference

12 December 2020

Multiple lysosomal enzyme deficiency due to enzyme leakage?

1 reference

12 December 2020

[A rare atypical muscular inclusion: "fingerprint bodies" (author's transl)].

1 reference

12 December 2020

I-cell disease (mucolipidosis type II). Serum hydrolases in obligate heterozygotes

1 reference

12 December 2020

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture.

1 reference

12 December 2020

A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts

1 reference

12 December 2020

Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis

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12 December 2020

The precipitation of polyanions by long-chain aliphatic ammonium compounds. IV. Elution in salt solutions of mucopolysaccharide-quaternary ammonium complexes adsorbed on a support

1 reference

12 December 2020

[Mucolipidosis type II (inclusion cell disease). Study of a case and review of the literature]

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12 December 2020

Ultrastructure and function of eccrine glands in the mucopolysaccharidoses

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12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

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12 December 2020

Infantile neuroaxonal dystrophy

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12 December 2020

I-cell disease: a clinical picture.

1 reference

12 December 2020

A new disease caused by accumulation of glycolipids. (Ceramide tetrahexosides)

1 reference

12 December 2020

Mucolipidosis II (I-cell disease): ultrastructural observations of conjunctiva and skin

1 reference

12 December 2020

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.

1 reference

12 December 2020

Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

1 reference

12 December 2020

Brain sphingolipids in I cell disease (mucolipidosis II).

1 reference

12 December 2020

Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase

1 reference

12 December 2020

[Type II mucolipidosis (I-cell disease)]

1 reference

12 December 2020

I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.

1 reference

12 December 2020

Ultrastructure of the skin in the genetic mucopolysaccharidoses

1 reference

12 December 2020

I-cell disease (mucolipidosis II): a lysosomopathy.

1 reference

12 December 2020

The genetic mucolipidoses. Diagnosis and differential diagnosis

1 reference

12 December 2020

[Clinical development of infantile neuro-axonal dystrophy in the light of the chronology of subjacent systematic atrophies]

1 reference

12 December 2020

Generalized gangliosidosis.

1 reference

12 December 2020

Ultrastructure of Cultured Fibroblasts in I-Cell Disease

1 reference

12 December 2020

Hepatic ultrastructure and histochemistry in mucolipidosis II (I-cell disease).

1 reference

12 December 2020

The sciatic nerve in juvenile metachromatic leucodystrophy: a quantitative evaluation

1 reference

12 December 2020

A method for the quantitative determination of neutral glycosphingolipids in urine sediment

1 reference

12 December 2020

Occurrence and significance of certain fibrillary glioses of the brain stem in very young children

1 reference

12 December 2020

I-cell disease: biochemical studies.

1 reference

12 December 2020

A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes

1 reference

12 December 2020

Leroy's l-cell disease: markedly increased activity of plasma acid hydrolases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00686161

1 reference

8 September 2017

1 reference