S
Suvimol Hill
Researcher at National Institutes of Health
Publications - 79
Citations - 10241
Suvimol Hill is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Precocious puberty & Bone age. The author has an hindex of 46, co-authored 78 publications receiving 9579 citations. Previous affiliations of Suvimol Hill include Henry M. Jackson Foundation for the Advancement of Military Medicine.
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Journal ArticleDOI
Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's Disease
Norman W. Barton,Roscoe O. Brady,James M. Dambrosia,A. M. Di Bisceglie,Samuel H. Doppelt,Suvimol Hill,Henry J. Mankin,Gary J. Murray,Robert I. Parker,Charles E. Argoff +9 more
TL;DR: Intravenous administration of macrophage-targeted glucocerebrosidase produces objective clinical improvement in patients with type 1 Gaucher's disease.
Journal ArticleDOI
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
Wendy Balemans,Martin Ebeling,N Patel,E Van Hul,P Olson,M Dioszegi,C Lacza,Wim Wuyts,J Van den Ende,Patrick Willems,AF Paes-Alves,Suvimol Hill,Manuel Bueno,Feliciano J. Ramos,Paolo Tacconi,Frederik G. Dikkers,Constantine A. Stratakis,Klaus Lindpaintner,B Vickery,Dorothee Foernzler,W. Van Hul +20 more
TL;DR: The SOST gene, which is mutated in sclerosteosis patients, encodes a protein with a signal peptide for secretion and a cysteine-knot motif that might become an important tool in the development of therapeutic strategies for osteoporosis.
Journal ArticleDOI
Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1β Inhibition
Raphaela Goldbach-Mansky,Natalie J Dailey,Scott W. Canna,Ana Gelabert,Janet Jones,Benjamin I. Rubin,H. Jeffrey Kim,Carmen C. Brewer,Christopher K. Zalewski,Edythe Wiggs,Suvimol Hill,Maria L. Turner,Barbara I. Karp,Ivona Aksentijevich,Frank Pucino,Scott R. Penzak,Margje H. Haverkamp,Leonard D. Stein,Barbara S. Adams,Terry L. Moore,Robert C. Fuhlbrigge,Bracha Shaham,James N. Jarvis,Kathleen M. O'Neil,Richard K. Vehe,Laurie O Beitz,Gregory C. Gardner,William P Hannan,Robert W. Warren,William Horn,Joe L Cole,Scott M. Paul,Philip N. Hawkins,T. Pham,Christopher Snyder,Robert Wesley,Steven C. Hoffmann,Steven M. Holland,John A. Butman,Daniel L. Kastner +39 more
TL;DR: Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations.
Journal ArticleDOI
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
Ivona Aksentijevich,Seth L. Masters,Polly J. Ferguson,Paul Dancey,Joost Frenkel,Annet van Royen-Kerkhoff,R. M. Laxer,Ulf Tedgård,Edward W. Cowen,Tuyet-Hang Pham,Matthew G. Booty,Jacob D. Estes,Netanya G. Sandler,Nicole Plass,Deborah L. Stone,Maria L. Turner,Suvimol Hill,John A. Butman,Rayfel Schneider,Paul Babyn,Hatem El-Shanti,Elena Pope,Karyl S. Barron,Xinyu Bing,Arian Laurence,Chyi-Chia Richard Lee,Dawn Chapelle,Gillian I. Clarke,Kamal Ohson,Marc Nicholson,Massimo Gadina,Barbara Yang,Benjamin D. Korman,Peter K. Gregersen,P. Martin van Hagen,A. Elisabeth Hak,Marjan Huizing,Proton Rahman,Daniel C. Douek,Elaine F. Remmers,Daniel L. Kastner,Raphaela Goldbach-Mansky +41 more
TL;DR: The term deficiency of the interleukin-1-receptor antagonist, or DIRA, is proposed to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN, resulting in life-threatening systemic inflammation with skin and bone involvement.
Journal ArticleDOI
Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder
Bodo Grimbacher,Steven M. Holland,John I. Gallin,Frank Greenberg,Suvimol Hill,Harry L. Malech,Judith A. Miller,Anne C. O'Connell,Jennifer M. Puck +8 more
TL;DR: The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system that is inherited as a single-locus autosomal dominant trait with variable expressivity.