Literature DB >> 4650864

Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies.

J S O'Brien, M W Ho, M L Veath, J F Wilson, G Myers, J M Opitz, G M ZuRhein, J W Spranger, H A Hartmann, B Haneberg, F R Grosse.   

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Year:  1972        PMID： 4650864     DOI： 10.1111/j.1399-0004.1972.tb01476.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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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

2.  GM1 gangliosidosis in skin fibroblast culture: enzymatic differences between types 1 and 2 and observations on a third variant.

Authors:  L Pinsky; J Miller; B Shanfield; G Watters; L S Wolfe
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

3.  Sustained normalization of neurological disease after intracranial gene therapy in a feline model.

Authors:  Victoria J McCurdy; Aime K Johnson; Heather L Gray-Edwards; Ashley N Randle; Brandon L Brunson; Nancy E Morrison; Nouha Salibi; Jacob A Johnson; Misako Hwang; Ronald J Beyers; Stanley G Leroy; Stacy Maitland; Thomas S Denney; Nancy R Cox; Henry J Baker; Miguel Sena-Esteves; Douglas R Martin
Journal:  Sci Transl Med       Date:  2014-04-09       Impact factor: 17.956

4.  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

5.  Generalized gangliosidosis type II (juvenile GM1 gangliosidosis). A pathological, histochemical and ultrastructural study.

Authors:  E F Gilbert; J Varakis; J M Opitz; G M ZuRhein; R Ware; C Viseskul; E G Kaveggia; H A Hartmann
Journal:  Z Kinderheilkd       Date:  1975-09-11

6.  An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Authors:  A G Norden; J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

7.  Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

Authors:  K Mahalingam; S Janani; S Priya; E M Elango; R Maya Sundari
Journal:  Indian J Pediatr       Date:  2004-01       Impact factor: 1.967

8.  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

9.  GM1 gangliosidosis, type 2: ocular clinicopathologic correlation.

Authors:  L J Cairns; W R Green; H S Singer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1984       Impact factor: 3.117

10.  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
  10 in total

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