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A Multinational Study of Patient and Caregiver‐Reported Insights Into ADSS1 Myopathy

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Year: 2025
Type: article
Study design: Observational Study
Source: Muscle & Nerve
DOI: 10.1002/mus.70033
Authors: Merve Koç Yekedüz, Yunjung Choi, Soo‐Hyun Kim, Raquel van Gool, Hanne van der Heijden, Lise Vrolix, Buket Sonbas Cobb, Seward Rutkowe, Julie Shulman, Alan Beggs, Atchayaram Nalini, Dipti Baskar, Naveen Baweja, Priyanka Kakkar, Walla Al‐Hertani, Hyung Jun Park, Jaymin Upadhyay
Institutions: Boston Children's Hospital, Harvard University, Ankara University, Yonsei University, Gangnam Severance Hospital, Beth Israel Deaconess Medical Center, Harran University, Manton Center for Orphan Disease Research, National Institute of Mental Health and Neurosciences, Children's Hospital of Orange County
Language: English

Topic: Neurogenetic and Muscular Disorders Research
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Boston Children's Hospital
OpenAlex ID: W4414525584
FWCI: 1.054
Cites: 24
Cited by: 2
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