(Q36570714)

15 August 2017

The amaurotic idiocies: correlation between biochemical data and clinical courses (English)

1 reference

15 August 2017

H. Pilz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5721984

22 June 2023

language of work or name

non-English

0 references

German

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5721984

22 June 2023

publication date

1 January 1968

1 reference

Deutsche Zeitschrift fur Nervenheilkunde

15 August 2017

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15 August 2017

194

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15 August 2017

187-218

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15 August 2017

3

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IMIDAZOLE AMINO ACIDURIA. A BIOCHEMICAL DEFECT IN JUVENILE TAY-SACHS DISEASE

15 August 2017

1 reference

12 December 2020

Studies on Tay-Sachs disease. III. Biochemistry. A. Analytic and metabolic aspects

1 reference

12 December 2020

On a biochemically special form of infantile amaturotic idiocy

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12 December 2020

Studies on the brain ganglioside strandin in normal brain and in Tay-Sachs' disease.

1 reference

12 December 2020

A SIMPLE AND ACCURATE MICROMETHOD FOR QUANTITATIVE DETERMINATION OF GANGLIOSIDE PATTERNS.

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12 December 2020

Tay‐Sachs' disease with visceral involvement and its relationship to Niemann‐Pick's disease

1 reference

12 December 2020

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

1 reference

12 December 2020

Tay-Sachs disease with hexosaminidase deficiency. Clinical, morphological and biochemical findings in a case with visceral storage of renal globosides

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12 December 2020

Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

1 reference

12 December 2020

STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I

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12 December 2020

[Very late forms of amaurotic idiocy in a stock of congenital oligophrenia with epilepsy]

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12 December 2020

ON A LATE INFANTILE AMAUROTIC IDIOCY WITH A COMPLEX ANATOMO-CLINICAL SEMIOLOGY

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12 December 2020

Studies on brain lipids in Tay-Sachs' disease. I. Isolation of two sialic acid-free glycolipids.

1 reference

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

12 December 2020

Juvenile and late forms of amaurotic idiocy in one family

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12 December 2020

CONGENITAL AMAUROTIC IDIOCY.

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12 December 2020

Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis).

1 reference

12 December 2020

[The storage of gangliosides in nervous tissue in Tay-Sachs disease and the changes in material preserved in formalin]

1 reference

12 December 2020

Biochemical evaluation of a combined sulfatidosis and gangliosidosis (glycolipidosis) of the brain.

1 reference

12 December 2020

On the relationship of metachromatic leucodystrophy and amaurotic idiocy

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12 December 2020

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

1 reference

12 December 2020

CHROMATOGRAPHIC STUDIES OF NORMAL AND TAY-SACHS GANGLIOSIDES (PEPTIDE-STRANDIN)

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12 December 2020

Gangliosides in subacute sclerosing leukoencephalitis: isolation and fatty acid composition of nine fractions.

1 reference

12 December 2020

Membranous cytoplasmic granules in infantile amaurotic idiocy

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12 December 2020

THE CHEMICAL STRUCTURE OF HUMAN KIDNEY GLOBOSIDE

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12 December 2020

[Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding]

1 reference

12 December 2020

Studies on brain lipids in Tay-Sachs' disease. II. Solubility properties of gangliosides.

1 reference

12 December 2020

ISOLATION AND CHARACTERIZATION OF THE MAIN SPLENIC GLYCOLIPIDS IN THE NORMAL ORGAN AND IN GAUCHER'S DISEASE: EVIDENCE FOR THE SITE OF METABOLIC BLOCK

1 reference

12 December 2020

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

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12 December 2020

[ON THE ENZYMATIC BREAKDOWN OF N-ACETYLNEURAMINOACID-FREE GANGLIOSIDE RESIDUES (CEREMIDE OLIGOSACCHARIDES)]

1 reference

12 December 2020

[On the behavior of brain gangliosides in 2 cases of late infantile amaurotic idiocy]

1 reference

12 December 2020

A new glycolipid in Tay-Sachs brain.

1 reference

12 December 2020

JUVENILE AMAUROTIC IDIOCY. CLINICAL, HISTOCHEMICAL AND BRAIN LIPIDS INVESTIGATION

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12 December 2020

The cerebral lipids in disseminated sclerosis and in amaurotic family idiocy.

1 reference

12 December 2020

THE QUANTITATIVE DETERMINATION OF GANGLIOSIDES AND THEIR NEURAMINIC ACID-FREE DERIVATIVES IN INFANTILE, JUVENILE AND FORMS OF AMAUROTIC IDIOCY AND AN UNUSUAL LATE INFANTILE BIOCHEMICAL FORM

1 reference

12 December 2020

Tay-Sachs disease. A generalized metabolic disorder

1 reference

12 December 2020

A CASE OF JUVENILE LIPIDOSIS: THE SIGNIFICANCE OF ELECTRON MICROSCOPIC AND BIOCHEMICAL OBSERVATIONS OF A CEREBRAL BIOPSY.

1 reference

12 December 2020

Familial occurrence of juvenile amaurotic family idiocy and phenylketonuria in the same subjects

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12 December 2020

A CONGENITAL FORM OF AMAUROTIC FAMILY IDIOCY

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12 December 2020

1 reference

12 December 2020

[Pathogenesis of the degeneration of conduction systems in amaurotic idocy, and the problem of its relation to myoclonus epilepsy]

1 reference

12 December 2020

Molecular composition of the major glycolipids in globoid cell leukodystrophy.

1 reference

12 December 2020

TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT AND ITS RELATION TO GARGOYLISM

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12 December 2020

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

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12 December 2020

The results of glycolipid analysis in certain types of lipidosis and leucodystrophy.

1 reference

12 December 2020

[Considerations on the structural determination of gangliosides]

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12 December 2020

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12 December 2020

A CLINICAL, BIOCHEMICAL AND ELECTRON MICROSCOPIC STUDY OF LATE INFANTILE AMAUROTIC FAMILY IDIOCY.

1 reference

12 December 2020

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. II. CONTROLLED THIN-LAYER CHROMATOGRAPHIC STUDIES OF GLOBOID BODY FRACTIONS IN SEVEN PATIENTS

1 reference

12 December 2020

THE GLYCOLIPIDS OF THE BRAIN OF TAY-SACHS' DISEASE.--THE CHEMICAL STRUCTURES OF A GLOBOSIDE AND MAIN GANGLIOSIDE

1 reference

12 December 2020

DETERMINATION OF C18- AND C24-SPHINGOMYELIN BY THIN-LAYER CHROMATOGRAPHY IN NORMAL AND PATHOLOGICAL BRAINS, INCLUDING A CASE OF NIEMANN-PICK DISEASE

1 reference

12 December 2020

Composition of brain ganglio-sides.

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12 December 2020

[A disorder of ganglioside metabolism with storage of ceramide lactoside, monosialo ceramide lactoside and Tay-Sachs ganglioside in the brain]

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12 December 2020

A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy

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12 December 2020

INFANTILE AMAUROTIC FAMILY IDIOCY AND GARGOYLISM IN SIBLINGS

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12 December 2020

[Concerning brain gangliosides in Tay-Sachs disease]

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12 December 2020

A CONTRIBUTION TO THE BIOCHEMISTRY OF TAY-SACHS DISEASE

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12 December 2020

TAY-SACHS DISEASE AND THE LATE FORMS OF AMAUROTIC IDIOCY IN THE FRAMEWORK OF CEREBRAL LIPOIDOSIS

1 reference

12 December 2020

Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine

1 reference

12 December 2020

The pattern of mammalian brain gangliosides. II. Evaluation of the extraction procedures, postmortem changes and the effect of formalin preservation

1 reference

12 December 2020

Some observations on the mucolipids of normal and Tay-Sachs' disease brain tissue.

1 reference

12 December 2020

ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM

1 reference

12 December 2020

Incorporation of selected isotopes into lipids of humans with cerebral lipidoses: studies on D-glucosamine-1-14C

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12 December 2020

The chemical structure of normal human brain and Tay-Sachs gangliosides

1 reference

12 December 2020

[Tay-Sachs familial infantile idiocy of myoclonic and epileptic form in 2 brothers; clinical, anatomo-pathological and hereditary aspects]

1 reference

12 December 2020

Biochemical and histochemical observations on Krabbe's disease. (Globoid body diffuse sclerosis).

1 reference

12 December 2020

Comparative studies of glycolipids and carbohydrate moieties in brain and visceral organs in amaurotic idiocy and gargolylism

1 reference

12 December 2020

A case of amaurotic juvenile idiocy with a non-calcifying meningio-cerebral angiomatosis

1 reference

12 December 2020

Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies.

1 reference

12 December 2020

Juvenile amaurotic idiocy

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12 December 2020

CHROMATOGRAPHlC SEPARATION OF HUMAN BRAIN GANGLIOSIDES*

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12 December 2020

Subacute sclerosing leukoencephalitis. II. Chemical studies including abnormal myelin and an abnormal ganglioside pattern.

1 reference

12 December 2020

Identifiers

1 reference