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5 resultsUpdated October 20, 2026
1

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

Journal of Medical Case Reports 12(1) (2018)

Najlae Adadi; Maryem Sahli; Grégory Egéa; Ilham Ratbi; Mohamed Taoudi; Layla Zniber; Wafaa Jdioui; Said El Mouatassim; Abdelaziz Sefiani

2

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

Frontiers in Neurology 12 (2021)

Farzad Fatehi; Mahmoud Reza Ashrafi; Marzieh Babaee; Behnaz Ansari; Mehran Beiraghi Toosi; Reza Boostani; Peyman Eshraghi; Atefeh Fakharian; Zahra Hadipour; Bahram Haghi Ashtiani; Hossein Moravej; Yalda Nilipour; Payam Sarraf; Keyhan Sayadpour Zanjani; Shahriar Nafissi

3

Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives

Therapeutics and Clinical Risk Management Volume 19 (2023)

Léa El Haddad; Mainur Khan; Rania Soufny; David Mummy; Bastiaan Driehuys; Wissam Mansour; Priya S Kishnani; Mai K ElMallah

4

Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

Open Journal of Clinical Diagnostics 09(01) (2019)

Paula De Almeida Thomazinho; Eliana Pelissari; Regina Célia Beltrão Duarte; Carolina Fishinger Moura De Souza; Heloíse Helena Siqueira Borges; Maria Da Glória Cruvinel Horta; Liane De Rosso Giuliani; Ana Maria Martins; Lilian Stewart; Dafne Dain Gandelman Horovitz; Juan Clinton Llerena