A case with rare type of congenital disorder of glycosylation: PGM1-CDG

Genetic Counseling

Volumn 26, Issue 1, 2015, Pages 87-90

  Kucukcongar A ^a   Tumer, L ^a   Suheyl Ezgu F ^a   Seher Kasapkara, C ^a   Jaeken, J ^b   Matthijs, G ^c   Rymen, D ^b   Dalgic B ^a   Bideci, A ^a   Hasanoglu, A ^a  

^a GAZI UNIVERSITY   (Turkey)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOGLUCOMUTASE;

CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; EXON; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; PHENOTYPE; PHOSPHOGLUCOMUTASE 1 DEFICIENCY; PRESCHOOL CHILD; SYMPTOMATOLOGY; GLYCOGEN STORAGE DISEASE; INFANT; PATHOLOGY; PATHOPHYSIOLOGY;

FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT;

EID: 84930151353     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (13)

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