SCOPUS 정보 검색 플랫폼

Human Mutation

Volumn 9, Issue 1, 1997, Pages 17-22

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

(5) Kroos, Marian A a Van Der Kraan, Magna a Van Diggelen, Otto P a Kleijer, Wim J a Reuser, Arnold J J a

a ERASMUS UNIVERSITY ROTTERDAM (Netherlands)

Author keywords

acid maltase; glucosidase; glycogen; glycogenosis; lysosomal; storage disease

Indexed keywords

DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLUCOSIDASE; GLYCOGEN;

ALLELE; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; FAMILY STUDY; GENE MUTATION; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; PHENOTYPE; PRIORITY JOURNAL;

FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; NETHERLANDS; PEDIGREE;

EID: 0031021106 PISSN: 10597794 EISSN: None Source Type: Journal
DOI: 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M Document Type: Article

Times cited : (24)

References (6)

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2
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3
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- Infantile and adult-onset acid maltase deficiency occurring in the same family
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4
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5
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6
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