Literature DB >> 7173264

Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.

A Kohlschütter, K Sieg, F J Schulte, H W Hayek, H H Goebel.   

Abstract

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Year:  1982        PMID： 7173264     DOI： 10.1007/bf00442086

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  15 in total

1.  The liver in GM1 gangliosidosis types 1 and 2. A light and electron microscopical study.

Authors:  M Petrelli; J D Blair
Journal:  Arch Pathol       Date:  1975-02

2.  GM1-generalized gangliosidosis variant with cardiomegaly.

Authors:  P F Benson; A Barbarik; S P Brown; T P Mann
Journal:  Postgrad Med J       Date:  1976-03       Impact factor: 2.401

3.  [Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)].

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Fortschr Neurol Psychiatr Grenzgeb       Date:  1978-04

4.  Electromyography in type II glycogenosis.

Authors:  H G Lenard; J Schaub; J Keutel; M Osang
Journal:  Neuropadiatrie       Date:  1974-11

5.  Micromethod for rapid separation of lymphocytes from peripheral blood.

Authors:  M Fotino; E J Merson; F H Allen
Journal:  Ann Clin Lab Sci       Date:  1971 Sep-Oct       Impact factor: 1.256

6.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

7.  Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides.

Authors:  R A Gravel; J A Lowden; J W Callahan; L S Wolfe; N M Ng Yin Kin
Journal:  Am J Hum Genet       Date:  1979-11       Impact factor: 11.025

8.  Fine structure of cutaneous nerves in ganglioside storage disease.

Authors:  C L Dolman; P M MacLeod; E Chang
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-06       Impact factor: 10.154

9.  Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.

Authors:  K Ikeda; H H Goebel; U Burck; A Kohlschütter
Journal:  Eur J Pediatr       Date:  1982-03       Impact factor: 3.183

10.  Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart).

Authors:  A Rees; F Elbl; K Minhas; R Solinger
Journal:  Am J Cardiol       Date:  1976-06       Impact factor: 2.778
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  6 in total

Review 1.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

2.  Clinical heterogeneity in infantile galactosialidosis.

Authors:  A C Sewell; B F Pontz; D Weitzel; C Humburg
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

Review 3.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

4.  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

Review 5.  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

Review 6.  Neuroradiological and neurophysiological indices for neurometabolic disorders.

Authors:  A Kohlschütter
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
  6 in total

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