Concepedia

Wendy J. Introne

WJ

39

Publications

2.8K

Citations

23

H-Index

2002

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Boston Children's Hospital

National Eye Institute

National Institute of Neurological Disorders and Stroke

Wendy J. Introne is an author at National Human Genome Research Institute specializing in medicine, pathology, and public health.

ORCID

Top concepts

Publications per year

2002–2024

39

Publications

39

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Melissa A. Merideth, Leslie B. Gordon, Sarah Clauss et al. · New England Journal of Medicine · 2008 · 734 citations · Full text

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 644 citations · Full text

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Wendy J. Introne, Monique B. Perry, James Troendle et al. · Molecular Genetics and Metabolism · 2011 · 201 citations · Full text

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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda et al. · Clinical Journal of the American Society of Nephrology · 2013 · 151 citations · Full text

Congenital Hypothyroidism: Screening and Management

Susan R. Rose, Ari J. Wassner, Kupper A. Wintergerst et al. · PEDIATRICS · 2022 · 68 citations

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