Literature DB >> 4264413

A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.

T Orii, R Minami, K Sukegawa, S Sato, S Tsugawa.   

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Year:  1972        PMID： 4264413     DOI： 10.1620/tjem.107.303

Source DB:  PubMed          Journal:  Tohoku J Exp Med        ISSN： 0040-8727            Impact factor:   1.848


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  10 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.  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

3.  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

4.  Prenatal diagnosis of GM1-gangliosidosis: biochemical manifestations in fetal tissues.

Authors:  T Kudoh; K Kikuchi; F Nakamura; S Yokoyama; K Karube; S Tsugawa; R Minami; T Nakao
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

5.  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

6.  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

7.  Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency.

Authors:  O T Mueller; T B Shows
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

8.  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

9.  Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adult.

Authors:  S Franceschetti; G Uziel; S Di Donato; L Caimi; G Avanzini
Journal:  J Neurol Neurosurg Psychiatry       Date:  1980-10       Impact factor: 10.154

10.  Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.

Authors:  M Masuno; S Tomatsu; K Sukegawa; T Orii
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132
  10 in total

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