Literature DB >> 4698932

Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease.

P N Konrad, D J McCarthy, A M Mauer, W N Valentine, D E Paglia.   

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Year:  1973        PMID： 4698932     DOI： 10.1016/s0022-3476(73)80120-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  10 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  The red cell 3 phosphoglycerate kinase polymorphism. Report of a new allele.

Authors:  J Y Le Gall; C Mubamba; Y Godin
Journal:  Hum Genet       Date:  1976-12-15       Impact factor: 4.132

3.  Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Authors:  Tuhin Virmani; Michael Rotstein; Ronen Spiegel; Hasan O Akman; Salvatore DiMauro; Paul E Greene
Journal:  Mov Disord Clin Pract       Date:  2014-06-26

Review 4.  Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Authors:  F Lamari; F Mochel; F Sedel; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2012-07-20       Impact factor: 4.982

5.  Blood cells as markers for metabolic disorders.

Authors:  E Beutler
Journal:  Blut       Date:  1985-12

6.  Characterization of a phosphoglycerate kinase variant associated with hemolytic anemia.

Authors:  A Yoshida; S Miwa
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

7.  Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia.

Authors:  W K Krietsch; S W Eber; B Haas; W Ruppelt; G W Kuntz
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

8.  Myopathy and parkinsonism in phosphoglycerate kinase deficiency.

Authors:  Evangelia Sotiriou; Paul Greene; Sindu Krishna; Michio Hirano; Salvatore DiMauro
Journal:  Muscle Nerve       Date:  2010-05       Impact factor: 3.217

Review 9.  [Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].

Authors:  H D Waller; H C Benöhr
Journal:  Klin Wochenschr       Date:  1976-09-01

10.  Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?

Authors:  Satoshi Sakaue; Takashi Kasai; Ikuko Mizuta; Masaya Suematsu; Shinya Osone; Yumiko Azuma; Toshihiko Imamura; Takahiko Tokuda; Hitoshi Kanno; Omar M A El-Agnaf; Masafumi Morimoto; Masanori Nakagawa; Hajime Hosoi; Toshiki Mizuno
Journal:  NPJ Parkinsons Dis       Date:  2017-03-31
  10 in total

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