Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort-Reference-Cited by-同舟云学术

Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort

Published:2015 Issue:s1 Volume:2 Page:S42-S42
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
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Author:

Gutiérrez-Rivas E.¹,Bautista J.²,Vílchez J.J.³,Muelas N.³,Díaz-Manera J.⁴,Illa I.⁴,Martínez-Arroyo A.⁵,Olivé M.⁵,Sanz I.⁶,Arpa J.⁶,Fernández-Torrón R.⁷,López de Munáin A.⁷,Jiménez L.⁸,Solera J.⁹,Lukacs Z.¹⁰

Affiliation:

1. Department of Neurology, 12 de Octubre Hospital, Madrid, Spain

2. Department of Neurology, Sagrado Corazón Clinic, Seville, Spain

3. La Fe Hospital, Valencia, Spain

4. Department of Neurology, Santa Creu i Sant Pau Hospital, Barcelona, Spain

5. Neuropathology Institute IDIBELL, Bellvitge Hospital, Barcelona, Spain

6. Department of Neurology, La Paz Hospital, Madrid, Spain

7. Department of Neurology, Donostia Hospital, San Sebastián, Spain

8. Clinical Biochemistry Section, Virgen del Rocío Hospital, Seville, Spain

9. Molecular Oncogenetic Unit, Institute of Medical and Molecular Genetics, La Paz Hospital, Madrid, Spain

10. Institute of Clinical Chemistry and Department of Pediatrics, Hamburg University Medical Center, Hamburg, Germany

Publisher

IOS Press

Subject

Clinical Neurology,Neurology

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1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry;Neuromuscular Disorders;2024-01

2. Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes;Biology;2023-08-23

3. Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management;Therapeutics and Clinical Risk Management;2022-12