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Journal of Computer Assisted Tomography, ISSN 0363-8715, 03/2018, Volume 42, Issue 2, pp. 230 - 235
Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about... 
glycogenic hepatopathy | focal hepatic glycogenosis | HEPATOCELLULAR GLYCOGENOSIS | COMPLICATION | HEPATOPATHY | LIVER GLYCOGENOSIS | ADOLESCENT | INSULIN | MAURIAC-SYNDROME | RARE CAUSE | TRANSAMINASES | DISEASE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Complications and side effects | Glycogenosis | Diagnosis | Type 1 diabetes
Journal Article
Revista Espanola de Enfermedades Digestivas, ISSN 1130-0108, 08/2017, Volume 109, Issue 8, pp. 599 - 600
Journal Article
Pediatrics, ISSN 0031-4005, 08/2003, Volume 112, Issue 2, pp. 332 - 340
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Nature Immunology, ISSN 1529-2908, 12/2012, Volume 13, Issue 12, pp. 1178 - 1186
Journal Article
Revue de Medecine Interne, ISSN 0248-8663, 03/2017, Volume 38, Issue 3, pp. 201 - 203
Introduction Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay.... 
Glycogenosis | Hepatomegaly | Diabetes | Insulin edema
Journal Article
Chest, ISSN 0012-3692, 10/2017, Volume 152, Issue 4, pp. A588 - A588
Journal Article
Journal of Orthopaedics, ISSN 0972-978X, 06/2018, Volume 15, Issue 2, pp. 685 - 689
Idiopathic toe walking (ITW) is a pathological gait pattern in which children walk on their tip toes with no orthopedic or neurological reason. Physiological... 
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 02/2012, Volume 160C, Issue 1, pp. 59 - 68
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that is caused by acid a-glucosidase (GAA) deficiency and is due to pathogenic... 
Pompe disease | acid a-glucosidase deficiency | FREQUENT MUTATION | MALTASE DEFICIENCY | BASILAR ARTERY | lysosomal storage disorder | SPANISH PATIENTS | MOLECULAR-IDENTIFICATION | acid maltase deficiency | GLYCOGENOSIS TYPE-II | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | glycogenosis | CHINESE PATIENTS | CATALYTIC SITE | KNOCKOUT MOUSE
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue 10, p. A264
Journal Article
PloS one, ISSN 1932-6203, 2019, Volume 14, Issue 6, p. e0218254
[This corrects the article DOI: 10.1371/journal.pone.0214582.]. 
Microorganisms | Dysbacteriosis | Glycogenosis | Liver diseases | Glycogen | Liver | Storage diseases
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 06/2018, Volume 60, Issue 6, pp. 579 - 586
In our long‐term survivors treated intravenously with enzyme replacement therapy, we found slowly progressive symmetric white‐matter abnormalities. Cognitive... 
HUMAN ALPHA-GLUCOSIDASE | STORAGE | DISEASE | FOLLOW-UP | PEDIATRICS | ENZYME REPLACEMENT THERAPY | CLINICAL NEUROLOGY | GLYCOGENOSIS | CHILDREN | MILK
Journal Article
LANCET, ISSN 0140-6736, 10/2008, Volume 372, Issue 9646, pp. 1342 - 1353
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic... 
ENZYME-REPLACEMENT THERAPY | GENOTYPE-PHENOTYPE CORRELATION | SKELETAL-MUSCLE | MEDICINE, GENERAL & INTERNAL | GLYCOGENOSIS TYPE-II | KNOCKOUT MOUSE MODEL | MALTASE DEFICIENCY | ACID-ALPHA-GLUCOSIDASE | DIRECT MULTIPLEX ASSAY | DRIED BLOOD SPOTS | HIGH-LEVEL PRODUCTION | Ventilation | Product development | Disease | Patients | Risk factors
Journal Article