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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

• Authors : Laney DA; Department of Human Genetics, Emory University, Atlanta, GA, USA. .; Banks KA

Subjects: Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/diagnosis ; Muscle Weakness*/Muscle Weakness*/Muscle Weakness*/diagnosis; Humans

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jan 14; Vol. 20 (1), pp. 23. Date of Electronic Publication: 2025 Jan 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

• Authors : Moschetti, Marta¹ (AUTHOR) ; Venezia, Marika¹ (AUTHOR) ; Giacomarra, Miriam¹ (AUTHOR)

Subjects: *GLYCOGEN storage disease type II; *ENZYME deficiency; *ENZYME replacement therapy

• Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p757. 15p.

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Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report

• Authors : Moein Mir; Kianmehr Rouhani; Kiana Rouhani

Subjects: Late-onset Pompe disease; α-Glucosidases; Glycogen storage disease type II

• Source: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-7 (2024)

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Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.

• Authors : Zhao, Yuying¹ (AUTHOR); Yu, Xiaolin² (AUTHOR); Li, Duoling¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/15/2024, Vol. 19 Issue 1, p1-9. 9p.

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Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.

• Authors : Truninger, Moritz Ilan^1,2,3 (AUTHOR); Werner, Helene^1,2,3 (AUTHOR); Landolt, Markus Andreas^2,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 9/28/2024, Vol. 19 Issue 1, p1-16. 16p.

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Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.

• Authors : Marotto, Daniela¹ (AUTHOR) ; Moschetti, Marta² (AUTHOR) ; Lo Curto, Alessia² (AUTHOR)

Subjects: *GLYCOGEN storage disease type II; *NEMALINE myopathy; *POLYNEUROPATHIESITALY

• Source: International Journal of Molecular Sciences. Nov2023, Vol. 24 Issue 21, p15924. 8p.

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

• Authors : Bevilacqua JA; Departamento de Neurología y Neurocirugía, Hospital Clínico, Universidad de Chile, Santiago, Chile.; Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile, Santiago, Chile.

Subjects: Glycogen Storage Disease Type II/Glycogen Storage Disease Type II/Glycogen Storage Disease Type II/*metabolism ; Glycogen Storage Disease Type II/Glycogen Storage Disease Type II/Glycogen Storage Disease Type II/*pathology ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Jan 13; Vol. 15 (1), pp. 11. Date of Electronic Publication: 2020 Jan 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Biomarker for Pompe Disease (BioPompe) (BioPompe)

• Source: Biomarker for Pompe Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGI-CAL PROTOCOL

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Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

• Authors : López-Rodríguez, Mónica¹ (AUTHOR); Torralba-Cabeza, Miguel Angel² (AUTHOR); de Pedro, Iván Pérez³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/31/2023, Vol. 18 Issue 1, p1-8. 8p.

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Degeneration of muscle spindles in a murine model of Pompe disease.

• Authors : Watkins, Bridgette¹ (AUTHOR); Schultheiß, Jürgen¹ (AUTHOR); Rafuna, Andi¹ (AUTHOR)

• Source: Scientific Reports. 4/21/2023, Vol. 13 Issue 1, p1-16. 16p.

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