Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.

Prenatal diagnosis

Volumn 24, Issue 3, 2004, Pages 231-232

  Chen, Chih Ping ^a   Lin, Shuan Pei ^a   Tzen, Chin Yuan ^a   Tsai, Fuu Jen ^a   Hwu, Wuh Liang ^a   Wang, Wayseen ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; ASPARTIC ACID; GLUTAMIC ACID; GLYCOGEN;

ADULT; CASE REPORT; ENZYMOLOGY; FEMALE; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOTE; HUMAN; LETTER; LYSOSOME; METABOLISM; MUTATION; PATHOLOGY; PREGNANCY; SECOND TRIMESTER PREGNANCY;

ADULT; ALPHA-GLUCOSIDASES; ASPARTIC ACID; FEMALE; GLUTAMIC ACID; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HOMOZYGOTE; HUMANS; LYSOSOMES; MUTATION; PREGNANCY; PREGNANCY TRIMESTER, SECOND;

EID: 2942657483     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.807     Document Type: Letter

References (0)