Literature DB >> 6125810

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

J A Bartley, D K Miller, J T Hayford, E R McCabe.   

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Year:  1982        PMID： 6125810     DOI： 10.1016/s0140-6736(82)90921-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  11 in total

1.  Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors:  A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

2.  Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.

Authors:  R L Habiby; P Boepple; L Nachtigall; P M Sluss; W F Crowley; J L Jameson
Journal:  J Clin Invest       Date:  1996-08-15       Impact factor: 14.808

Review 3.  Recently recognized chromosomal defects of clinical importance.

Authors:  M Pembrey; M Baraitser
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

Review 4.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

5.  Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.

Authors:  J A Towbin; D R Wu; J Chamberlain; P D Larsen; W K Seltzer; E R McCabe
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

6.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

7.  Subcellular distribution and kinetic properties of soluble and particulate-associated bovine adrenal glycerol kinase.

Authors:  W K Seltzer; E R McCabe
Journal:  Mol Cell Biochem       Date:  1984-09       Impact factor: 3.396

8.  Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

Authors:  E R McCabe; J A Towbin; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

9.  Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics.

Authors:  W K Seltzer; E R McCabe
Journal:  Mol Cell Biochem       Date:  1984-04       Impact factor: 3.396

10.  Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Authors:  J Chelly; F Marlhens; B Dutrillaux; G J Van Ommen; M Lambert; B Haioun; G Boissinot; M Fardeau; J C Kaplan
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132
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