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K08 DK105233

Funded outputs count: 14
Funder award ID: K08 DK105233
OpenAlex ID: G747479372
Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2
2020 · Changrui Xiao, Esteban Astiazaran‐Symonds, et al. · American Journal of Medical Genetics Part A · 13
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut
2020 · Friederike Hörster, Ali Tunç Tuncel, et al. · Journal of Inherited Metabolic Disease · 38
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Genetic considerations for adults with congenital heart disease
2020 · Seiji Ito, Kimberly A. Chapman, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 12
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
2019 · Parith Wongkittichote, Gary Cunningham, et al. · Molecular Genetics and Metabolism · 40
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Practical management of organic acidemias
2019 · Kimberly A. Chapman · Translational Science of Rare Diseases · 10
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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
2018 · Kimberly A. Chapman, Gwendolyn Gramer, et al. · Molecular Genetics and Metabolism Reports · 57
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Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata
2018 · Anna R. Blask, Eva I. Rubio, et al. · Pediatric Radiology · 23
Propionyl‐CoA carboxylase pcca‐1 and pccb‐1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
2017 · Kimberly A. Chapman, Julian Ostrovsky, et al. · Journal of Inherited Metabolic Disease · 22
Propionyl-CoA carboxylase – A review
2017 · Parith Wongkittichote, Nicholas Ah Mew, et al. · Molecular Genetics and Metabolism · 261
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Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism
2017 · Kirkland A. Wilson, Yong Han, et al. · American Journal of Physiology-Endocrinology and Metabolism · 52
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Do the data really support ordering fragile X testing as a first-tier test without clinical features?
2017 · Veronique Weinstein, Pranoot Tanpaiboon, et al. · Genetics in Medicine · 22
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Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes
2015 · Kimberly A. Chapman, Maria S. Collado, et al. · Molecular Genetics and Metabolism · 19
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
2015 · Zejuan Li, Rhonda Schonberg, et al. · Journal of Human Genetics · 33
Microstructure of coke briquettes from hydrolysis lignin
1984 · B.N. Zhitov, Yu.G. Korolev, et al. · OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)
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