Literature DB >> 7609460

X-linked adrenoleukodystrophy and haemophilia A in the same kindred.

A Nogueira1, P Jorge, J Dores, M Cunha, S Sousa, I Pereira, M Campos, B Justiça, D Quelhas, M Sá Miranda.   

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Year:  1993        PMID： 7609460     DOI： 10.1007/BF00711691

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma.

Authors:  R M HARDISTY; J C MACPHERSON
Journal:  Thromb Diath Haemorrh       Date:  1962-05-15

2.  X-linked adrenoleukodystrophy: identification of the primary defect at the level of a deficient peroxisomal very long chain fatty acyl-CoA synthetase using a newly developed method for the isolation of peroxisomes from skin fibroblasts.

Authors:  R J Wanders; C W van Roermund; M J van Wijland; R B Schutgens; A W Schram; J M Tager; H van den Bosch; C Schalkwijk
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

3.  Color vision defects in adrenomyeloneuropathy.

Authors:  G H Sack; M B Raven; H W Moser
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025

4.  Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

Authors:  B J Trask; H Massa; S Kenwrick; J Gitschier
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

5.  Identification of female carriers of adrenoleukodystrophy.

Authors:  H W Moser; A E Moser; J E Trojak; S W Supplee
Journal:  J Pediatr       Date:  1983-07       Impact factor: 4.406

6.  Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

Authors:  S E Antonarakis; P G Waber; S D Kittur; A S Patel; H H Kazazian; M A Mellis; R B Counts; G Stamatoyannopoulos; E J Bowie; D N Fass
Journal:  N Engl J Med       Date:  1985-10-03       Impact factor: 91.245

Review 7.  Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Authors:  H W Moser; A B Moser; S Naidu; A Bergin
Journal:  Dev Neurosci       Date:  1991       Impact factor: 2.984

8.  Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.

Authors:  R Feil; P Aubourg; J Mosser; A M Douar; D Le Paslier; C Philippe; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

9.  The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3.

Authors:  M Purrello; B Alhadeff; D Esposito; P Szabo; M Rocchi; M Truett; F Masiarz; M Siniscalco
Journal:  EMBO J       Date:  1985-03       Impact factor: 11.598
  9 in total
  1 in total

1.  A family with combined mutations of the hemophilia A and X-linked adrenoleukodystrophy genes.

Authors:  Brent L Fogel; Pari Young; Arthur R Thompson; Susan Perlman
Journal:  Neurogenetics       Date:  2008-05-15       Impact factor: 2.660
  1 in total

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