Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 691-694

  Achouitar, Samira ^a   Goldstein, Jennifer L ^b   Mohamed, Miski ^b   Austin, Stephanie ^a   Boyette, Keri ^a   Blanpain, Francoise M ^b   Rehder, Catherine W ^b   Kishnani, Priya S ^a   Wortmann, Saskia B ^b   den Heijer, Martin ^a   Lefeber, Dirk J ^a   Wevers, Ron A ^a   Bali, Deeksha S ^a   Morava, Eva ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Diarrhea; Founder effect; Glycogen storage disease type IX; Hypoglycemia; Tube feeding

Indexed keywords

CHOLESTEROL; GLUCOSIDE; LACTIC ACID; LEUCINE; PHOSPHORYLASE KINASE; PROLINE; STARCH; TRIACYLGLYCEROL;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIARRHEA; DIET THERAPY; DISEASE SEVERITY; FAILURE TO THRIVE; FEMALE; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HYPOGLYCEMIA; LIVER DYSFUNCTION; LIVER PHOSPHORYLASE B KINASE DEFICIENCY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE;

CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; HEPATOMEGALY; HUMANS; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE; PHOSPHORYLASE KINASE;

EID: 82255174963     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.021     Document Type: Article

References (11)

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