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.
Inborn Urea Cycle Disorder
Medicine & Life Sciences
Newborn Infant
Medicine & Life Sciences
Growth Hormone
Medicine & Life Sciences
Inborn Errors Metabolism
Medicine & Life Sciences
Mutation
Medicine & Life Sciences
Serine Proteinase Inhibitors
Medicine & Life Sciences
Urea
Chemical Compounds
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
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
Inborn Errors Metabolism
Research
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
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., Hietala, A., Kenney-Jung, D. L., Lund, T. C., Miller, W., Pierpont, R., Raymond, G., Winslow, H., Zierhut, H. & Orchard, P. J., Jan 1 2019, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree
Including ELSI research questions in newborn screening pilot studies
for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 525-533 9 p.Research output: Contribution to journal › Article
Newborn Infant
Research
Bioethics
Translational Medical Research
Parents
2
Citations
(Scopus)
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
Ng, B. G., Xu, G., Chandy, N., Steyermark, J., Shinde, D. N., Radtke, K., Raymond, K., Lebrilla, C. B., AlAsmari, A., Suchy, S. F., Powis, Z., Faqeih, E. A., Berry, S. A., Kronn, D. F. & Freeze, H. H., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 188-195 8 p.Research output: Contribution to journal › Article
Congenital Disorders of Glycosylation
Fucosyltransferases
Mutation
Polysaccharides
Exome
7
Citations
(Scopus)
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Members of the Urea Cycle Disorders Consortium, Jul 1 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 657-667 11 p.Research output: Contribution to journal › Article
Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia