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8 research outputs found

Phosphoglycerate kinase deficiency

Author: Svirklys Leon George, Biochemistry, Faculty of Biological Sciences, UNSW
Publication venue: University of New South Wales. Faculty of Biological Sciences. Biochemistry
Publication date: 01/01/1984
Field of study

Immunochemical studies on phosphoglycerate kinase deficiency

Author: Armstrong
Chen
Chen
Dodgson
Grabar
Itzhaki
Kuntz
Mancini
Michelson
Ouchterlony
Scopes
Svirklys
Valentine
Valentine
Publication venue: 'Elsevier BV'
Publication date
Field of study

Phosphoglycerate Kinase Deficiency: Biochemical Studies on Hair Follicles

Author: Dancis J.
Deys B. F.
Hjelm M.
Konrad P. N.
Krietsch W. K.
Miguel A.
Svirklys L. G.
Vermorken A. J. M.
Vermorken A. J. M.
Publication venue: 'Walter de Gruyter GmbH'
Publication date: 01/01/1986
Field of study

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

Author: Brusilow
Carstens
Grompe
Gronipe
Hata
Hata
Hata
Hentzen
Hinkelstein
Hoshide
Huygen
Kraus
Lyon
Maddalena
Maddalena
Matsuda
Matsuda
Matsuura
Matsuura
Nagata
Old
Orita
Rozen
Rozen
Saiki
Saiki
Spence
Suess
Svirklys
Tuchman
Publication venue: 'Wiley'
Publication date: 01/01/1994
Field of study

Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred

Author: Chen S.H.
Cohen-Solal M.
Huang I.-Y.
Kanno H.
Lowry O.H.
Maeda M.
Maniatis T.
Svirklys L.G.
Tsujino S.
Valentine W.N.
Watson H.C.
Yoshida A.
Publication venue: 'Wiley'
Publication date
Field of study

Mitochondrial Dysfunction in NnaD Mutant Flies and Purkinje Cell Degeneration Mice Reveals a Role for Nna Proteins in Neuronal Bioenergetics

Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency

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