Nephropathic Cystinosis First reported case in Oman Journal title: Sultan Qaboos University Medical Journal Authors: Dana Al-Nabhani| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Moham... Subject(s): Medicine, Biochemistry, Biomedicine
A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period Journal title: The Journal of Pediatric Research Authors: Şükran Keskin Gözmen, Kıymet Çelik, Şebnem Çalkavur, Erkin Serdaroğlu Subject(s): Medicine, Pediatrics
Glycogen storage disease type 3: a management challenge in pregnancy Journal title: Internet Journal of Medical Update Authors: Ojo Okunoye, Corinne Deakin, Simon Maguire Subject(s):
Head and neck amyloidosis – report of two cases Journal title: Polski Przegląd Otorynolaryngologiczny Authors: Dawid Zagacki, Marcin Braun, Dariusz Kaczmarczyk Subject(s): Medicine, Internal Medicine, Surgery, Otorhinolaryngology
UNUSUAL EUGLYCEMIC PRESENTATION OF GLYCOGEN STORAGE DISEASE TYPE 1B Journal title: Journal of Evidence Based Medicine and Healthcare Authors: Shivaprakash Sosale C, Nagaraj M.V, Sujatha R Subject(s):
Heart in Fabry Disease Journal title: Journal of Rare Cardiovascular Diseases Authors: Paweł Petkow Dimitrow 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):
Neuroautoimmune reactions in norm and in patients with neuropathic forms of lysosomal storage diseases Journal title: Український неврологічний журнал Authors: N. О. Pichkur Subject(s):
A rare case of Glycogen storage disease type XI Fanconi-Bickel Syndrome Journal title: Journal Of Pediatric Critical Care Authors: Manisha Garg, Ashok Gupta, Priyanshu Mathur, Manish Sharma, Rajesh kumar, Vikas Gupta, Manjunath M Subject(s):
False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor Journal title: The Journal of Pediatric Research Authors: Eser Yıldırım Sözmen, Meral Dondurmacı, Sema Kalkan Uçar, Mahmut Çoker Subject(s):
A Case of Glycogen Storage Disease: A Case Report and Review of Literature Journal title: Scholars Journal of Medical Case Reports Authors: SK Mathur, Sonia Chhabra, Padam Parmar, Pansi Gupta, Mahesh Tayal Subject(s):
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey Journal title: The Journal of Pediatric Research Authors: Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker Subject(s):
Glycogenic Hepatopathy in a 19- year-old Male with Uncontrolled Insulin Dependent Diabetes: Clinical Presentation and Review of Literature Journal title: Journal of Clinical and Diagnostic Research Authors: Dustin L Little, Creticus Petrov Marak, Achuta Kumar Guddati, William G Simpson Subject(s):
McArdle’s Disease (Glycogen Storage Disease type V): A Clinical Case Journal title: Archives of Case Reports Authors: T Calheiros-Cruz, MP Caamaño-Vara, B Villar-Fernández, J Ruibal-Azevedo, L Cameselle-Cortizo, M Came... Subject(s):
Glycogen Storage Disease in Pediatric Population Journal title: The Egyptian Journal of Hospital Medicine Authors: Eman Helal Subject(s):
