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):
Lysosomal acid lipase deficiency in Brazilian children: a case series Journal title: Jornal de Pediatria Authors: Gabriel Benevides Subject(s):
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):
Knowledge of Primary Care Physicians on Lysosomal Storage Disorders Journal title: The Journal of Pediatric Research Authors: Engin Köse, Selda Bülbül, Nur Arslan Subject(s):
HEPATIC GLYCOGENOSIS IN CHILDREN: SPECTRUM OF PRESENTATION AND DIAGNOSTIC MODALITIES Journal title: Journal of Ayub Medical College Abbottabad Authors: Subject(s):
