Projects per year
Fingerprint The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
- 2 Similar Profiles
Inborn Urea Cycle Disorder
Medicine & Life Sciences
Newborn Infant
Medicine & Life Sciences
Growth Hormone
Medicine & Life Sciences
Inborn Errors Metabolism
Medicine & Life Sciences
Urea
Chemical Compounds
Mutation
Medicine & Life Sciences
Serine Proteinase Inhibitors
Medicine & Life Sciences
Messenger RNA
Medicine & Life Sciences
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 2007 2020
Data Monitoring Committee: "An Open-label Ascending Dose Cohort Study to Assess the Safety,Pharmacokinetics, and Preliminary Efficacy of NeoGAA (GZ402666) in Patients with Infantile-onset PompeDisease Treated with Alglucosidase Alfa Who Demonstrate Cli
2/15/19 → 12/31/20
Project: Research project
Clinical Trials Data Monitoring Committees
Glycogen Storage Disease Type II
Cohort Studies
Pharmacokinetics
Safety
Data Monitoring Committee: "A Phase 3 randomized, multicenter, multinational, double-blinded studycomparing the efficacy and safety of repeated biweekly infusions of neoGAA (GZ402666) andalglucosidase alfa in treatment-naive patients with late
2/15/19 → 12/31/20
Project: Research project
Clinical Trials Data Monitoring Committees
Safety
Therapeutics
human GAA protein
Region 4 Genetics Collaborative
Michigan Public Health Institute
6/1/17 → 5/31/20
Project: Research project
Inborn Errors Metabolism
Research
Inborn Errors of Metabolism Collaborative Stakeholder Ne
Michigan Public Health Institute
1/1/18 → 11/30/18
Project: Research project
stakeholder
metabolism
Research Output 1977 2019
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
LaConte, L. E. W., Chavan, V., DeLuca, S., Rubin, K., Malc, J., Berry, S. A., Gail Summers, C. & Mukherjee, K., Jan 1 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 94-103 10 p.Research output: Contribution to journal › Article
Open Access
Retinal Dystrophies
Optic Atrophy
Microcephaly
Missense Mutation
Optic Nerve
1
Citation
(Scopus)
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy
Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A. O., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jul 1 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.Research output: Contribution to journal › Article
Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree
Developing interactions with industry in rare diseases: lessons learned and continuing challenges
Berry, S. A., Coughlin, C. R., McCandless, S., McCarter, R., Seminara, J., Yudkoff, M. & LeMons, C., Jan 1 2019, In : Genetics in Medicine.Research output: Contribution to journal › Article
Open Access
Inborn Urea Cycle Disorder
Rare Diseases
Industry
National Institutes of Health (U.S.)
Orphan Drug Production
Foundation of the Newborn Screening Translational Research Network and its tools for research
Lloyd-Puryear, M., Brower, A., Berry, S. A., Brosco, J. P., Bowdish, B. & Watson, M. S., Jun 1 2019, In : Genetics in Medicine. 21, 6, p. 1271-1279 9 p.Research output: Contribution to journal › Review article
Translational Medical Research
Newborn Infant
Research
Research Personnel
Rare Diseases
Health supervision for children with neurofibromatosis type 1
COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.Research output: Contribution to journal › Review article
Open Access
Neurofibromatosis 1
Inheritance Patterns
Health
Peripheral Nervous System
Growth and Development