Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.

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Bibliographic Details
Title: Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome.
Authors: Zuo MXG; HPS Network, One South Road, Oyster Bay, NY 11771, United States of America., Zuo BLG; HPS Network, One South Road, Oyster Bay, NY 11771, United States of America., O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, United States of America., Friedman V; HPS Network, One South Road, Oyster Bay, NY 11771, United States of America., Appell D; HPS Network, One South Road, Oyster Bay, NY 11771, United States of America., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, United States of America., Merideth MA; Office of the Clinical Director, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, United States of America. Electronic address: mmeridet@mail.nih.gov., Gochuico BR; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, United States of America.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jul; Vol. 148 (3), pp. 110142. Date of Electronic Publication: 2026 May 15.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2026.110142