Literature DB >> 200232

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.

E R McCabe, P V Fennessey, M A Guggenheim, B S Miles, W W Bullen, D J Sceats, S I Goodman.   

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Year:  1977        PMID： 200232     DOI： 10.1016/0006-291x(77)91437-1

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  16 in total

1.  [Recurrent anorexia and pigmentation of skin for more than two months in an infant].

Authors:  Zhang-Qian Zheng; Bing-Bing Wu; Miao-Ying Zhang; Wei Lu; Fei-Hong Luo
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2017-08

2.  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

3.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  Global metabolic effects of glycerol kinase overexpression in rat hepatoma cells.

Authors:  Ganesh Sriram; Lola Rahib; Jian-Sen He; Allison E Campos; Lilly S Parr; James C Liao; Katrina M Dipple
Journal:  Mol Genet Metab       Date:  2007-10-29       Impact factor: 4.797

5.  Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction.

Authors:  J R Lupski; Y H Zhang; M Rieger; M Minter; B Hsu; B G Ooi; T Koeuth; E R McCabe
Journal:  J Bacteriol       Date:  1990-10       Impact factor: 3.490

6.  Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.

Authors:  D A Pillers; J A Towbin; J S Chamberlain; D Wu; J Ranier; B R Powell; E R McCabe
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

7.  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

8.  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

9.  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

10.  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
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