Literature DB >> 1138177

Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy.

G Dubois, J C Turpin, N Baumann.   

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Year:  1975        PMID: 1138177     DOI: 10.1056/nejm197508072930613

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  24 in total

1.  Population frequency of the arylsulphatase A pseudo-deficiency allele.

Authors:  P V Nelson; W F Carey; C P Morris
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Authors:  V Gieselmann; A Polten; J Kreysing; K von Figura
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

3.  Heterozygote detection in MLD. allelic mutations at the ARA locus.

Authors:  D F Farrell
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

Review 4.  Genetic heterogeneity in metachromatic leukodystrophy.

Authors:  H Kihara
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

5.  Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Authors:  A L Fluharty; C B Fluharty; W Bohne; K von Figura; V Gieselmann
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

6.  Placental steroid deficiency: association with arylsulfatase A deficiency.

Authors:  J Vidgoff; M M Buxman; L J Shapiro; R L Dimond; T G Wilson; C A Hepburn; T Tabei; W R Heinrichs
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

7.  Biliary disease in metachromatic leukodystrophy.

Authors:  L Heier; A Daneman; J A Lowden; E Cutz; S Craw; D J Martin
Journal:  Pediatr Radiol       Date:  1983

8.  Atypical metachromatic leukodystrophy? Problems with the biochemical diagnosis.

Authors:  T Tønnesen; C Vrang; U N Wiesmann; H Christomanou; H O Lou
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

9.  Biochemical variability of arylsulphatases -A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency.

Authors:  P L Chang; N E Rosa; S R Ballantyne; R G Davidson
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

10.  Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.

Authors:  M L Barth; A Fensom; A Harris
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

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