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Phosphorylaseb kinase deficiency in glycogenosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay

G. T. N. Besley

Journal of Inherited Metabolic Disease, 1987, Volume 10, Number 2, Pages 115-118

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Journal Article

Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI

N. Dahan, C. Baussan, N. Moatti and A. Lemonnier

Journal of Inherited Metabolic Disease, 1988, Volume 11, Number 3, Pages 253-260

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Phosphorylase kinase deficiency: Severe glycogen storage disease with evidence of autosomal recessive mode of inheritance

O. Søvik, Th. de Barsy and B. Maehle

European Journal of Pediatrics, 1982, Volume 139, Number 3, Page 210

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Journal Article

Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency

K. Goji, Y. Morishita, S. Kodama, T. Takahashi and T. Matsuo

European Journal of Pediatrics, 1984, Volume 143, Number 3, Pages 179-182

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Journal Article

Genetic deficiencies of the glycogen phosphorylase system

Jan Hendrickx and Patrick J. Willems

Human Genetics, 1996, Volume 97, Number 5, Pages 551-556

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Journal Article

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle

M. J. Lozano, T. Benlloch, L. V. Garcia and M. Garcia Fuentes

Journal of Inherited Metabolic Disease, 1994, Volume 17, Number 1, Pages 116-117

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Journal Article

Glycogen storage disease: recommendations for treatment

J. Fernandes, J. V. Leonard, S. W. Moses, M. Odièvre and M. Rocco, et al.

European Journal of Pediatrics, 1988, Volume 147, Number 3, Pages 226-228

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Journal Article

Glycogenosis storage type I diseases and evolutive adenomatosis: an indication for liver transplantation

JanP. Lerut, Olga Ciccarelli, Christine Sempoux, Etienne Danse and Jacques deFlandre, et al.

Transplant International, 2002, Volume 16, Number 12, Pages 879-884

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Journal Article

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years

J. Hendrickx, N. U. Bosshard, P. Willems and R. Gitzelmann

European Journal of Pediatrics, 1997, Volume 157, Number 11, Pages 919-923

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Journal Article

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

Barbara Burwinkel, Lluis Amat, R. George F. Gray, Nobutake Matsuo and Koji Muroya, et al.

Human Genetics, 1998, Volume 102, Number 4, Pages 423-429

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