Literature DB >> 5486623

Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.

S Okada, M L Veath, J S O'Brien.   

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Year:  1970        PMID： 5486623     DOI： 10.1016/s0022-3476(70)80096-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  17 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.  Progress in investigations of sphingolipidoses.

Authors:  M Adachi; L Schneck; B W Volk
Journal:  Acta Neuropathol       Date:  1978-08-07       Impact factor: 17.088

Review 4.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

Review 5.  The biochemical genetics of the hexosaminidase system in man.

Authors:  E Beutler
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

6.  A preclinical case of late adult metachromatic leukodystrophy? Manifestation only with lipid abnormalities in urine, enzyme deficiency and decrease of nerve conduction velocity.

Authors:  H Pilz; H C Hopf
Journal:  J Neurol Neurosurg Psychiatry       Date:  1972-06       Impact factor: 10.154

7.  Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.

Authors:  E M Brett; R B Ellis; L Haas; J U Ikonne; B D Lake; A D Patrick; R Stephens
Journal:  Arch Dis Child       Date:  1973-10       Impact factor: 3.791

8.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

9.  A case of G M2 gangliosidosis of late onset.

Authors:  P Buxton; J N Cumings; R B Ellis; B D Lake; W G Mair; J R Roberts; E P Young
Journal:  J Neurol Neurosurg Psychiatry       Date:  1972-10       Impact factor: 10.154

10.  Independent loss of human hexosaminidases A and B in man-chinese hamster somatic cell hybrids.

Authors:  H van Someren
Journal:  Humangenetik       Date:  1973-04-16
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