Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2
Edyta Szymańska(Children's Memorial Health Institute), Anna Tylki‐Szymańska(Children's Memorial Health Institute), Urszula Wątrobińska(Children's Memorial Health Institute), Elżbieta Ciara(Children's Memorial Health Institute), Dariusz Rokicki(Children's Memorial Health Institute), Rafał Płoski(Medical University of Warsaw), Paulina Halat(Children's Memorial Health Institute)
Cited by 19
Related Papers
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
|The American Journal of Human Genetics|2005|562
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
|Orphanet Journal of Rare Diseases|2015|345
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
|Blood|2011|288
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
|Journal of the American Society of Nephrology|2015|284
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
|Orphanet Journal of Rare Diseases|2011|237