Literature DB >> 4270725

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

E M Brett, R B Ellis, L Haas, J U Ikonne, B D Lake, A D Patrick, R Stephens.   

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Year:  1973        PMID： 4270725      PMCID： PMC1648533          DOI： 10.1136/adc.48.10.775

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  22 in total

1.  Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.

Authors:  K Sandhoff
Journal:  FEBS Lett       Date:  1969-08       Impact factor: 4.124

2.  THE RECTAL APPROACH TO NEUROPATHOLOGY.

Authors:  M BODIAN; B D LAKE
Journal:  Br J Surg       Date:  1963-07       Impact factor: 6.939

3.  N-acetylhexosaminidase activities in Tay-Sachs disease.

Authors:  B Hultberg
Journal:  Lancet       Date:  1969-11-29       Impact factor: 79.321

4.  [On the behavior of brain gangliosides in 2 cases of late infantile amaurotic idiocy].

Authors:  H Bernheimer; F Seitelberger
Journal:  Wien Klin Wochenschr       Date:  1968-03-01       Impact factor: 1.704

5.  Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Authors:  K Sandhoff; U Andreae; H Jatzkewitz
Journal:  Pathol Eur       Date:  1968

6.  Partial deficiency of hexosaminidase component a in juvenile gm2-gangliosidosis.

Authors:  Y Suzuki; K Suzuki
Journal:  Neurology       Date:  1970-09       Impact factor: 9.910

7.  Cerebral lipids in a case of systemic Gm2-gangliosidosis of a late infantile type.

Authors:  C Klibansky; A Saifer; N I Feldman; L Schneck; B W Volk
Journal:  J Neurochem       Date:  1970-03       Impact factor: 5.372

8.  Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors:  J S O'Brien; S Okada; A Chen; D L Fillerup
Journal:  N Engl J Med       Date:  1970-07-02       Impact factor: 91.245

9.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.

Authors:  B G Neville; B D Lake; R Stephens; M D Sanders
Journal:  Brain       Date:  1973       Impact factor: 13.501

10.  N-Acetyl-beta-glucosaminidases in human spleen.

Authors:  D Robinson; J L Stirling
Journal:  Biochem J       Date:  1968-04       Impact factor: 3.857
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  22 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

3.  MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.

Authors:  Matilde Inglese; Annette O Nusbaum; Gregory M Pastores; John Gianutsos; Edwin H Kolodny; Oded Gonen
Journal:  AJNR Am J Neuroradiol       Date:  2005-09       Impact factor: 3.825

4.  Neurocognitive testing in late-onset Tay-Sachs disease: a pilot study.

Authors:  D Elstein; G M Doniger; E Simon; I Korn-Lubetzki; R Navon; A Zimran
Journal:  J Inherit Metab Dis       Date:  2008-05-30       Impact factor: 4.982

Review 5.  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

6.  Hexosaminidase A deficiency presenting as juvenile progressive dystonia.

Authors:  R J Hardie; E P Young; J A Morgan-Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-03       Impact factor: 10.154

7.  Reassessment of rectal approach to neuropathology in childhood: review of 307 biopsies over 11 years.

Authors:  E M Brett; B D Lake
Journal:  Arch Dis Child       Date:  1975-10       Impact factor: 3.791

Review 8.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

9.  GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI.

Authors:  W Koelfen; M Freund; W Jaschke; S Koenig; C Schultze
Journal:  Neuroradiology       Date:  1994       Impact factor: 2.804

10.  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
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