Rapid progressive course of later-onset Pompe disease in Chinese patients

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 284-288

  Yang, Chih Chao ^a   Chien, Yin Hsiu ^a   Lee, Ni Chung ^a   Chiang, Shu Chuan ^a   Lin, Shuan Pei ^b   Kuo, Yung Ting ^c   Chen, Shun Sheng ^d   Jong, Yuh Jyh ^e   Hwu, Wuh Liang ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^d CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^e KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Acid maltase deficiency; Enzyme replacement therapy; Genotype; Later onset; Pompe disease

Indexed keywords

GLYCOGEN; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; ARTICLE; ARTIFICIAL VENTILATION; CHILD; CHINESE; CHROMOSOME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FORCED VITAL CAPACITY; FUNCTIONAL STATUS; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; LATER ONSET POMPE DISEASE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE INJURY; NUCLEOTIDE SEQUENCE; ONSET AGE; PATIENT POSITIONING; PRIORITY JOURNAL; PROGNOSIS; QUADRICEPS FEMORIS MUSCLE; RATING SCALE; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS; TAIWAN; TREATMENT OUTCOME; TREATMENT RESPONSE; UNIVERSITY HOSPITAL; VENTILATOR; WALTON GARDNER MEDWIN SCALE;

ADOLESCENT; ADULT; ALPHA-GLUCOSIDASES; ASIAN CONTINENTAL ANCESTRY GROUP; ENZYME REPLACEMENT THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUTAGENESIS, SITE-DIRECTED; POINT MUTATION; RESPIRATION, ARTIFICIAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TAIWAN; TREATMENT OUTCOME;

EID: 82455162379     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.010     Document Type: Article

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