D. Kerr

发表

Autosomal dominant acute necrotizing encephalopathy

M. Wiznitzer, D. Kerr, M. Warman, 2003, Neurology.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

J. Ganesh, S. Dimauro, F. Scaglia, 2022, Molecular genetics and metabolism.

Mutations in the X‐linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

S. Seneca, L. de Meirleir, E. Naito, 2000, Human mutation.

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

D. Kerr, C. Hoppel, A. Zinn, 1986, The New England journal of medicine.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy

N. Brunetti‐Pierri, D. Kerr, W. Craigen, 2007, Hepatology.

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets

D. Kerr, S. Cederbaum, M. Patel, 1997, Neurology.

Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1‐2q13

H. Feiler, K. Wilhelmsen, M. Warman, 2004, Annals of neurology.

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

G. Brown, L. de Meirleir, D. Kerr, 1992 .

Genetic Defects in Human Pyruvate Dehydrogenase a

D. Kerr, M. Patel, I. Wexler, 1989, Annals of the New York Academy of Sciences.

Identification of a cDNA clone for the beta-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex.

A. Caliendo, D. Kerr, M. Patel, 1988, Biochemical and biophysical research communications.

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

D. Kerr, M. Patel, Y. Hong, 1997, Biochimica et biophysica acta.

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.

D. Kerr, W. Craigen, M. Patel, 1996, Human molecular genetics.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

J. Ganesh, S. Dimauro, John L.P. Thompson, 2022, Molecular genetics and metabolism.

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

D. Kerr, M. Patel, C. Prasad, 2008, Molecular genetics and metabolism.

Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (‐R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

D. Kerr, M. Patel, M. Kolli, 1996, Human mutation.

Primary amino acid sequence and structure of human pyruvate carboxylase.

D. Kerr, S. Freytag, S. Mandal, 1994, Biochimica et biophysica acta.

Fasting metabolism in infants: II. The effect of severe undernutrition and infusion of alanine on glucose production estimated with U-13C-glucose.

D. Kerr, D. Picou, D. Picou, 1978, Metabolism: clinical and experimental.

Protean manifestations of mitochondrial diseases: a minireview.

D. Kerr, D. Kerr, 1997, Journal of pediatric hematology/oncology.