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Literature DB >> 4524311

Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

B R Migeon, F Huijing.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1974 PMID： 4524311 PMCID： PMC1762619

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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7 in total

1. Phosphorylase kinase deficiency in mice.

Authors: F Huijing
Journal: FEBS Lett Date: 1970-10 Impact factor: 4.124

2. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.

Authors: R G DAVIDSON; H M NITOWSKY; B CHILDS
Journal: Proc Natl Acad Sci U S A Date: 1963-09 Impact factor: 11.205

3. Sex chromatin and gene action in the mammalian X-chromosome.

Authors: M F LYON
Journal: Am J Hum Genet Date: 1962-06 Impact factor: 11.025

4. Protein measurement with the Folin phenol reagent.

Authors: O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal: J Biol Chem Date: 1951-11 Impact factor: 5.157

5. Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

Authors: B R Migeon
Journal: Am J Hum Genet Date: 1971-03 Impact factor: 11.025

6. X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.

Authors: F Huijing; J Fernandes
Journal: Am J Hum Genet Date: 1969-05 Impact factor: 11.025

7. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

Authors: B R Migeon; V M Der Kaloustian; W L Nyhan; W J Yough; B Childs
Journal: Science Date: 1968-04-26 Impact factor: 47.728

7 in total

10 in total

Review 1. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

Review 2. Phosphorylase b kinase deficiency in man: a review.

Authors: I E Van den Berg; R Berger
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

3. Age-related augmentation of phosphorylase b kinase in hepatic tissue from the glycogen-storage-disease (gsd/gsd) rat.

Authors: D G Clark; S D Neville; M Brinkman; P V Nelson; R J Illman; A Guthberlet; W D Haynes
Journal: Biochem J Date: 1986-09-15 Impact factor: 3.857

Review 4. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1991 Impact factor: 2.957

5. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.

Authors: P J Willems; W J Gerver; R Berger; J Fernandes
Journal: Eur J Pediatr Date: 1990-01 Impact factor: 3.183

6. Hair root versus red cell individual phenotype in Sardinian heterozygotes for G6PD deficiency (Mediterranean type).

Authors: G Romeo; A Rinaldi; F Urbano; G Filippi
Journal: Am J Hum Genet Date: 1976-09 Impact factor: 11.025

7. Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.

Authors: G T Besley
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982