Gaucher’s Disease (the Modern View on the Problem) Journal title: Гастроентерологія Authors: V.B. Yagmur Subject(s):
Exocrine Pancreatic Insufficiency in Diabetes Mellitus: Incidence, Pathogenesis, Diagnosis and Treatment Journal title: Гастроентерологія Authors: S.M. Tkach Subject(s):
Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis Journal title: The Journal of Pediatric Research Authors: Pelin Teke Kısa, Engin Köse, Merve Ateşoğlu, Nur Arslan Subject(s):
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy Journal title: Iranian Journal of Medical Sciences Authors: Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar Subject(s):
Biventricular cardiomyopathy improvement by shifting therapy from agalsidase alfa to agalsidase beta in Anderson‐Fabry Disease Journal title: Journal of Rare Cardiovascular Diseases Authors: Walter Serra, Guido Pastorini Subject(s):
Unusual Presentation of Atypical Infantile Pompe Disease in the Newborn Period with Left Ventricular Hypertrophy Journal title: Journal of Clinical and Diagnostic Research Authors: Sanjay Kumar, Amit Kumar Subject(s):
Myocardial infarction in Fabry disease – misfortune or companion? Case report and review of the literature Journal title: Journal of Rare Cardiovascular Diseases Authors: Jakub Chmiel, Maciej Skubera, Jacek Bednarek, Klaudia Knap, Marta Swarowska‐Skuza, Stanisława Baza... Subject(s):
Gauchers Disease: Case Report of 7 Rare Cases in and around Bareilly District in Northern India Over a Span of 4 Years Journal title: International Journal of Contemporary Medical Research Authors: Sumit Sachan, Sneh Suman Sachan, Ravi Chauhan Subject(s):
Study of Clinical Spectrum and Enzyme Replacement EffectinGaucher’s disease: Series of 7 Cases Journal title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) Authors: Dr. Amar verma, Dr. Rani Manisha, Dr. M. Verma, Dr. Sunanda Jha, Dr. Priyanka Subject(s):
Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method Journal title: Jornal de Pediatria Authors: Mirela Andrade Subject(s):
A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy Journal title: Journal of Clinical Research in Pediatric Endocrinology Authors: Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert Subject(s): Medicine, Internal Medicine, Pediatrics
LA MUCOPOLYSACCHARIDOSE DE TYPE I: EFFICACITE DU TRAITEMENT ENZYMATIQUE SUBSTITUTIF PAR LA LARONIDASE CHEZ UN CAS. Journal title: International Journal of Advanced Research (IJAR) Authors: Fadoua Bouzid , Zahra Brakez, Ilham Benyamna , Abdelhamid Elmousadik, Bouchaib Jabir and Najat Alif. Subject(s):
Development, Validation, and Clinical Implementation of an Assay to Measure Total Antibody Response to Naglazyme® (Galsulfase) Journal title: The AAPS Journal Authors: Joleen T. White, Lisa Argento Martell, Andrea Van Tuyl, Ryan Boyer, Laura Warness, Gary T. Taniguchi... Subject(s): Medicine
Comparison of Neutralizing Antibody Assays for Receptor Binding and Enzyme Activity of the Enzyme Replacement Therapeutic Naglazyme® (Galsulfase) Journal title: The AAPS Journal Authors: Joleen T. White, Lisa Argento Martell, William S. Prince, Ryan Boyer, Lucy Crockett, Christopher Cox... Subject(s): Medicine
