K. Chapman

发表

LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations

D. Regier, Navya Kanderi, B. Kirmse, 2022, Molecular genetics and metabolism reports.

Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.

W. Cui, M. Purdy, M. Summar, 2016, Molecular genetics and metabolism.

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis

N. Ah Mew, N. Shur, D. Regier, 2020, American journal of medical genetics. Part A.

Genetic considerations for adults with congenital heart disease

A. John, K. Chapman, Monisha S. Kisling, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Appropriate Use of Genetic Testing in Congenital Heart Disease Patients

A. John, K. Chapman, Monisha S. Kisling, 2017, Current Cardiology Reports.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

A. Vanderver, R. Taft, J. Schreiber, 2015, American journal of human genetics.

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

M. Baumgartner, M. Summar, Elena Pumbo, 2019, Molecular genetics and metabolism.

Propionyl-CoA carboxylase - A review.

N. Ah Mew, K. Chapman, Parith Wongkittichote, 2017, Molecular genetics and metabolism.

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2020, Journal of inherited metabolic disease.

Inter-relations between 3-hydroxypropionate and propionate metabolism in rat liver: relevance to disorders of propionyl-CoA metabolism.

G. Cline, Guo-Fang Zhang, H. Brunengraber, 2017, American journal of physiology. Endocrinology and metabolism.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry

S. Kölker, P. Burgard, A. Lund, 2019, Journal of inherited metabolic disease.

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Deneen M Heath, K. Chapman, D. Zand, 2015, Molecular genetics and metabolism reports.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency

Gloria L. Porras-Hurtado, Y. Chien, C. Moreau, 2022, Journal of inherited metabolic disease.

Propionic acidemia: To liver transplant or not to liver transplant?

G. Enns, M. Summar, K. Chapman, 2012, Pediatric transplantation.

A False-positive Newborn Screening Result: Goat's Milk Acidopathy

J. Ganesh, C. Ficicioglu, K. Chapman, 2008, Pediatrics.

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

P. Tanpaiboon, N. Ah Mew, S. Hofherr, 2017, Genetics in Medicine.

Mitochondrial energetic impairment in a patient with late‐onset glutaric acidemia Type 2

C. Ferreira, Yudong Wang, J. Vockley, 2020, American journal of medical genetics. Part A.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

Seth I. Berger, M. S. Collado, R. Figler, 2022, American journal of medical genetics. Part A.

From trash to treasure! The importance of preserving rare disease medical waste for basic research.

K. Chapman, 2021, Molecular genetics and metabolism.

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.

B. Henke, M. S. Collado, R. Figler, 2021, Molecular genetics and metabolism.

Development of clinical guidelines for inborn errors of metabolism: commentary.

J. Vockley, G. Arnold, K. Chapman, 2013, Molecular genetics and metabolism.

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

M. Summar, G. Gramer, K. Chapman, 2018, Molecular genetics and metabolism reports.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

A. Vanderver, L. Medne, A. Gropman, 2014, American journal of medical genetics. Part A.

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Systemic organic acidemias: Identification, diagnosis, management and long term complications

K. Chapman, 2016 .

Urea Cycle Disorders Overview

A. Gropman, B. Lanpher, M. Summar, 2015 .

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Natural history of propionic acidemia.

Tiina K. Urv, V. Sutton, A. Gropman, 2012, Molecular genetics and metabolism.

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

B. Graham, L. Burrage, G. Mazariegos, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

M. Baumgartner, M. Hochuli, S. Grünert, 2021, Journal of inherited metabolic disease.

Chronic management and health supervision of individuals with propionic acidemia.

V. Sutton, A. Gropman, C. Venditti, 2012, Molecular genetics and metabolism.

Acute management of propionic acidemia.

Tiina K. Urv, V. Sutton, A. Gropman, 2012, Molecular genetics and metabolism.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

I. T. de Almeida, H. Blom, M. Hochuli, 2016, Journal of Inherited Metabolic Disease.

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

D. Bulas, K. Chapman, E. Rubio, 2018, Pediatric Radiology.

Neurologic considerations in propionic acidemia.

V. Sutton, J. Schreiber, A. Gropman, 2012, Molecular genetics and metabolism.

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study

S. Waisbren, K. Chapman, G. Cox, 2023, Molecular genetics and metabolism reports.

Practical management of organic acidemias

K. Chapman, 2020 .

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate

N. Ah Mew, B. Kirmse, K. Chapman, 2015, Advances in neonatal care : official journal of the National Association of Neonatal Nurses.

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

P. Kruszka, J. V. Van Hove, E. Spector, 2014, Molecular genetics and metabolism reports.

Propionic acidemia consensus conference summary.

M. Summar, K. Chapman, 2012, Molecular genetics and metabolism.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Euan A Ashley, Enrico Bertini, Matthew B Klein, 2019, PloS one.

A de novo 8.8‐Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

E. Zackai, N. Spinner, C. Haldeman-Englert, 2010, American journal of medical genetics. Part A.

Systemic organic acidemias: Identification, diagnosis, management and long term complications

K. Chapman, 2014, Journal of Pediatric Biochemistry.

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

C. Romano, E. Eichler, H. Firth, 2020, Genetics in Medicine.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Soma Das, G. Vezina, M. Summar, 2015, Journal of Human Genetics.

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.

Zhe Zhang, W. Bush, K. Chapman, 2015, Molecular genetics and metabolism.

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes.

M. S. Collado, R. Figler, B. Wamhoff, 2020, Molecular genetics and metabolism.

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

Marni J. Falk, M. Falk, K. Chapman, 2012, Methods in molecular biology.

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

M. Yudkoff, M. Falk, Rui Xiao, 2018, Journal of Inherited Metabolic Disease.

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

A. Vanderver, Taeun Chang, G. Vezina, 2014, Molecular genetics and metabolism reports.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

E. Zackai, N. Spinner, H. Hakonarson, 2011, American journal of medical genetics. Part A.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States.

N. Ah Mew, Sneha S. Jain, B. Kirmse, 2015, Molecular genetics and metabolism.

Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism☆

M. Summar, B. Kirmse, K. Chapman, 2017, Molecular genetics and metabolism reports.

Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2023, Journal of inherited metabolic disease.

Chronic management and health supervision of individuals with propionic acidemia.

C. Venditti, D. Matern, L. Pena, 2012, Molecular genetics and metabolism.

OP017: Triheptanoin for the treatment of Long-Chain Fatty Acid Disorders (LC-FAOD): Final results of an open-label, long-term extension study

J. Vockley, B. Burton, N. Longo, 2022, Genetics in Medicine.