نتائج البحث

Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes

• Authors : Mohamed Abdelghafar Hussein; Heba ElTaher; Ranim Mahmoud

Subjects: Male; Glycogen Storage Disease Type II; Research

• Source: Ital J PediatrItalian Journal of Pediatrics, Vol 51, Iss 1, Pp 1-8 (2025)

تفاصيل العنوان

L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report

• Authors : Valentina Rovelli; Juri Zuvadelli; Marta Piotto

Subjects: Pompe Disease; Enzyme replacement therapy; L-alanine

• Source: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

تفاصيل العنوان

Enzyme replacement therapy: efficacy and limitations

• Authors : Daniela Concolino; Federica Deodato; Rossella Parini

Subjects: Enzyme replacement therapy; ERT; Mucopolysaccharidosis

• Source: Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 117-126 (2018)

تفاصيل العنوان

Results of orthodontic procedure in a patient with classic infantile Pompe disease.

• Authors : Grimaldi CM; School of Medicine and Surgery, Università degli Studi Milano Bicocca, Milan, Italy.; Department of Pediatrics, Fondazione IRCCS San Gerardo Hospital, University Milano Bicocca, Monza, Italy.

Subjects: Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/complications ; Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/therapy ; Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/diagnosis

• Source: Italian journal of pediatrics [Ital J Pediatr] 2025 Jul 15; Vol. 51 (1), pp. 231. Date of Electronic Publication: 2025 Jul 15.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

تفاصيل العنوان

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

• Authors : Ceravolo, Ferdinando^1,2 (AUTHOR); Mascaro, Italia¹ (AUTHOR); Sestito, Simona¹ (AUTHOR)

• Source: Italian Journal of Pediatrics. 2013, Vol. 39 Issue 1, p53-55. 3p. 1 Chart.

تفاصيل العنوان

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

• Authors : Gragnaniello V; Division of Inherited Metabolic Diseases - Department of Diagnostic Services, University Hospital of Padua, Padua, Italy.; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

Subjects: Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/therapy; alpha-Glucosidases/alpha-Glucosidases/alpha-Glucosidases/adverse effects ; alpha-Glucosidases/alpha-Glucosidases/alpha-Glucosidases/therapeutic use

• Source: Italian journal of pediatrics [Ital J Pediatr] 2022 Mar 05; Vol. 48 (1), pp. 41. Date of Electronic Publication: 2022 Mar 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

تفاصيل العنوان

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series

• Authors : Lingling Xu; Hongjun Ba; Yuxin Pei

Subjects: Enzyme replacement therapy; Glycogen storage disease type II; Respiratory failure

• Source: Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-11 (2019)

تفاصيل العنوان