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Browse Glycogen storage diseases topic

Diagnosis subtopic


1-11 out of 11 article(s)
Title Author Type Date Words
A New Mutation Causing Severe InfantileOnset Pompe Disease Responsive to Enzyme Replacement Therapy. Moravej, Hossein; Amirhakimi, Anis; Showraki, Alireza; Amoozgar, Hamid; Hadipour, Zahra; Nikfar, Gha Case study Mar 1, 2018 2437
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease. Liao, Hsuan-Chieh; Chan, Min-Ju; Yang, Chia-Feng; Chiang, Chuan-Chi; Niu, Dau-Ming; Huang, Chun-Kai; Report Jul 1, 2017 4453
Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease. Topaloglu, Omercan; Sezer, Sibel Demiral; Demir, Bilgin; Yener, Abdullah Serkan Case study Jun 1, 2017 355
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid [alpha]-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. Lin, Na; Huang, Jingyu; Violante, Sara; Orsini, Joseph J.; Caggana, Michele; Hughes, Erin E.; Steven Report Apr 1, 2017 6611
First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII. Kadhim, Hazim; Segers, Valerie; Vilain, Catheline; Desir, Julie; D'Haene, Nicky Clinical report Jan 1, 2017 3966
McArdle's disease presenting with acute renal failure. Maharaj, A.B.; Patel, V.B. Case study May 1, 2016 413
Unique glucose-6-phosphatase, catalytic subunit mutation in a child with type Ia glycogen storage disease in Taiwan. Chang, Chia-Ying; Chen, Chien-Han Report Sep 1, 2014 2042
Glycogen storage disease type 3: a management challenge in pregnancy. Okunoye, Ojo Gbemisola; Deakin, Corinne; Maguire, Simon Case study Jul 1, 2014 598
Diagnosis and management of Pompe disease. Bhengu, L.; Davidson, A.; du Toit, P.; Els, C.; Gerntholtz, T.; Govendrageloo, K.; Henderson, B.; Mu Report Apr 1, 2014 1582
Clinical properties and disease prognosis in cases of glycogen-storage disease type 1a and type 1b. Eminoglu, Fatma Tuba; Tumer, Leyla; Okur, Ilyas; Ezgu, Fatih Suheyl; Hasanoglu, Alev Report Jun 1, 2013 4388
Type I glycogen storage disease. pamphlet Sep 23, 1991 403

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