Literature DB >> 5679107

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

H Pilz, D Müller, K Sandhoff, V ter Meulen.   

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Year:  1968        PMID： 5679107     DOI： 10.1055/s-0028-1110836

Source DB:  PubMed          Journal:  Dtsch Med Wochenschr        ISSN： 0012-0472            Impact factor:   0.628


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  11 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

2.  Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease.

Authors:  G Fontaine; A Résibois; M Tondeur; G Jonniaux; J P Farriaux; W Voet; E Maillard; H Loeb
Journal:  Acta Neuropathol       Date:  1973-01-30       Impact factor: 17.088

3.  [Enzymatic studies on the blood of carriers of a Tay-Sachs disease variant (variant O)].

Authors:  K Harzer; K Sandhoff; H Schall; F Kollmann
Journal:  Klin Wochenschr       Date:  1971-11-01

4.  [Infantile amaurotic idiocy and related forms as ganglioside storage diseases].

Authors:  K Sandhoff; H Jatzkewitz; G Peters
Journal:  Naturwissenschaften       Date:  1969-07

5.  [The amaurotic idiocies: correlation between biochemical data and clinical courses].

Authors:  H Pilz
Journal:  Dtsch Z Nervenheilkd       Date:  1968

Review 6.  [Endogenous storage diseases of the lung. Attempt at classification clinical diagnosis and problems].

Authors:  F J Bassermann
Journal:  Pneumonologie       Date:  1971

7.  GM2-gangliosidosis, AB variant: clinico-pathological study of a case.

Authors:  C M de Baecque; K Suzuki; I Rapin; A B Johnson; D L Whethers
Journal:  Acta Neuropathol       Date:  1975-12-19       Impact factor: 17.088

8.  The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.

Authors:  J E Goldman; T Yamanaka; I Rapin; M Adachi; K Suzuki; K Suzuki
Journal:  Acta Neuropathol       Date:  1980       Impact factor: 17.088

9.  The metabolism of Tay-Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay-Sachs brain tissue.

Authors:  J F Tallman; W G Johnson; R O Brady
Journal:  J Clin Invest       Date:  1972-09       Impact factor: 14.808

Review 10.  My journey into the world of sphingolipids and sphingolipidoses.

Authors:  Konrad Sandhoff
Journal:  Proc Jpn Acad Ser B Phys Biol Sci       Date:  2012       Impact factor: 3.493
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