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Genetics in Medicine, ISSN 1098-3600, 05/2006, Volume 8, Issue 5, pp. 267 - 288
Journal Article
Journal Article
Kidney International, ISSN 0085-2538, 10/2015, Volume 88, Issue 4, pp. 676 - 683
Journal Article
Deutsche Medizinische Wochenschrift, ISSN 0012-0472, 07/2018, Volume 113, Issue 13, pp. 945 - 952
Journal Article
Endoscopy, ISSN 0013-726X, 04/2015, Volume 47, Issue 4, pp. 352 - 386
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 08/2019, Volume 117, Issue 4, pp. 271 - 271
Pompe disease, also known as acid maltase deficiency or glycogenosis type II, is a rare severe, autosomal, recessive, and progressive genetic disorder caused... 
Pompe disease | glycogenosis type II | INVOLVEMENT | PHENOTYPE | motor disorders | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | DEFICIENCY | CHILDREN | ALGLUCOSIDASE ALPHA | muscular hypotonia | MUSCLE BIOPSIES | ACID ALPHA-GLUCOSIDASE | PEDIATRICS | cardiomyopathies | ENZYME REPLACEMENT THERAPY
Journal Article
2012, 11th ed., ISBN 0702034088, xi, 653
Recognized worldwide as the standard textbook for laboratory haematology, this highly successful, practical manual describes all of the techniques used in the... 
diagnosis | Hematologic Diseases | Hematologic Tests | Laboratory Techniques and Procedures | Blood | Examination
Book