Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

Journal of Neurology

Volumn 255, Issue 6, 2008, Pages 831-838

  Wan, L ^a,b,c   Lee, C C ^a   Hsu, C M ^a   Hwu, W L ^d   Yang, C C ^d   Tsai, C H ^a,c   Tsai, F J ^a,b,c  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b CHINA MEDICAL UNIVERSITY   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Acid glucosidase; Glycogen storage disease type II; Mutation analysis; Novel mutation; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; ARTICLE; CHILDHOOD DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CARRIER; ENZYME ACTIVITY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT DISEASE; ONSET AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALPHA-GLUCOSIDASES; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HOMOZYGOTE; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; TAIWAN;

EID: 50049101719     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0714-0     Document Type: Article

References (20)

1. Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II (GSDII). Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, McGraw-Hill, New York, pp 3389-3420
2. Moreland 2005 J Biol Chem 280 6780
3. Hoefsloot 1990 Biochem J 272 493
4. Shieh 1998 Hum Mutat 11 306
5. Van der Kraan 1994 Biochem Biophys Res Commun 203 1535
6. Fernandez-Hojas 2002 Neuromuscul Disord 12 159
7. Palmer 2007 Neuromuscul Disord 17 16
8. Vorgerd 1998 Neurogenetics 1 205
9. Kishnani 2006 J Pediatr 148 671
10. Teng 2004 Chang Gung Med J 27 379
11. Ko 1999 Hum Mutat 13 380
12. Lin 1996 Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 37 115
13. Shieh 1994 J Inherit Metab Dis 17 145
14. Lin 1987 J Inherit Metab Dis 10 11
15. Lovering 2004 J Biol Chem 280 2105
16. Huie 1994 Hum Mol Genet 3 1081
17. Huie 1998 Biochem Biophys Res Commun 244 921
18. Zhang 1998 Hum Mol Genet 7 919
19. Baralle 2005 J Med Genet 42 737
20. Wessagowit 2005 J Dermatol Sci 40 73