Literature DB >> 131309

GM1-generalized gangliosidosis variant with cardiomegaly.

P F Benson, A Barbarik, S P Brown, T P Mann.   

Abstract

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Year:  1976        PMID： 131309      PMCID： PMC2496387          DOI： 10.1136/pgmj.52.605.159

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


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  20 in total

1.  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".

Authors:  B H LANDING; F N SILVERMAN; J M CRAIG; M D JACOBY; M E LAHEY; D L CHADWICK
Journal:  Am J Dis Child       Date:  1964-11

2.  LEUCOCYTE ENZYMES IN DOWN'S SYNDROME.

Authors:  W J MELLMAN; F A OSKI; T A TEDESCO; A MACIERA-COELHO; H HARRIS
Journal:  Lancet       Date:  1964-09-26       Impact factor: 79.321

3.  GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?

Authors:  J S O'BRIEN; M B STERN; B H LANDING; J K O'BRIEN; G N DONNELL
Journal:  Am J Dis Child       Date:  1965-04

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

Authors:  N K GONATAS; J GONATAS
Journal:  J Neuropathol Exp Neurol       Date:  1965-04       Impact factor: 3.685

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

Authors:  R LEDEEN; K SALSMAN; J GONATAS; A TAGHAVY
Journal:  J Neuropathol Exp Neurol       Date:  1965-04       Impact factor: 3.685

6.  Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease.

Authors:  R M NORMAN; H URICH; A H TINGEY; R A GOODBODY
Journal:  J Pathol Bacteriol       Date:  1959-10

7.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

8.  [Generalized, Norman-Landing type, GM1 gangliosidosis: study of a case diagnosed during the life of the patient].

Authors:  P Seringe; B Plainfosse; F Lautmann; J Lorilloux; G Calamy; J P Berry; J M Watchi
Journal:  Ann Pediatr (Paris)       Date:  1968-03-02

9.  Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II.

Authors:  J M Tanner; R H Whitehouse; M Takaishi
Journal:  Arch Dis Child       Date:  1966-12       Impact factor: 3.791

10.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728
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  4 in total

1.  Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.

Authors:  A Kohlschütter; K Sieg; F J Schulte; H W Hayek; H H Goebel
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

2.  Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

Authors:  A Hinek; S Zhang; A C Smith; J W Callahan
Journal:  Am J Hum Genet       Date:  2000-06-06       Impact factor: 11.025

3.  Corneal clouding in GM1-generalized gangliosidosis.

Authors:  A Babarik; P F Benson; A H Fensom
Journal:  Br J Ophthalmol       Date:  1976-08       Impact factor: 4.638

Review 4.  Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.

Authors:  A Kohlschütter; G Hausdorf
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183
  4 in total

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