Literature DB >> 4278184

Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

A Yamamoto, S Adachi, S Kawamura, M Takahashi, T Kitani.   

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Year:  1974        PMID: 4278184     DOI: 10.1001/archinte.134.4.627

Source DB:  PubMed          Journal:  Arch Intern Med        ISSN: 0003-9926


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  11 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  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

Review 3.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

4.  Adult type mucolipidosis with beta-galactosidase and sialidase deficiency. Histological and biochemical studies.

Authors:  T Kobayashi; M Ohta; I Goto; Y Tanaka; Y Kuroiwa
Journal:  J Neurol       Date:  1979-09       Impact factor: 4.849

5.  A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological, and cell genetic studies.

Authors:  A J Reuser; G Andria; E de Wit-Verbeek; A Hoogeveen; E del Giudice; D Halley
Journal:  Hum Genet       Date:  1979-01-19       Impact factor: 4.132

6.  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

7.  beta-Galactosidase deficiency in juvenile and adult patients. Report of six Japanese cases and review of literature.

Authors:  Y Suzuki; N Nakamura; K Fukuoka; Y Shimada; M Uono
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

8.  A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.

Authors:  S Okada; T Yutaka; T Kato; C Ikehara; H Yabuuchi; M Okawa; M Inui; H Chiyo
Journal:  Eur J Pediatr       Date:  1979-04-03       Impact factor: 3.183

9.  Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.

Authors:  Y Ben-Yoseph; B K Burton; H L Nadler
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025

10.  Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.

Authors:  A C Sewell; J Gehler; J Spranger
Journal:  Eur J Pediatr       Date:  1980-05       Impact factor: 3.183

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