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A Previously Unknown Mutation in the Pyruvate Kinase Gene (PKLR) Identified from a Neonate with Severe Jaundice
by Yaish, Hassan M
Neonatology (Basel, Switzerland), 2014-08, Vol.106 (2), p.140-142
2.
Regulation of pyruvate metabolism and human disease
by Gray, Lawrence R
Cellular and molecular life sciences : CMLS, 2013-12-21, Vol.71 (14), p.2577-2604
3.
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death
by Sperl, W
European journal of pediatrics, 1990-04, Vol.149 (7), p.487-492
4.
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene
by Dahl, H H
American journal of human genetics, 1990-08, Vol.47 (2), p.286-293
5.
Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase
by YOSHIDA, I
Pediatric research, 1990, Vol.27 (1), p.75-79
6.
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia
by BYRD, D. J
European journal of pediatrics, 1989, Vol.148 (6), p.543-547
7.
The changing face of dietary therapy for epilepsy
by Pasca, Ludovica
European Journal of Pediatrics, 2016-09-01, Vol.175 (10), p.1267-1276
8.
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy
by Sedel, F
Journal of neurology, neurosurgery and psychiatry, 2008-07, Vol.79 (7), p.846-847
9.
Five patients with a biotin-responsive defect in holocarboxylase formation : Evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro
by SUORMALA, T
Pediatric research, 1997, Vol.41 (5), p.666-673
10.
Acute and Chronic Pancreatitis in Patients with Inborn Errors of Metabolism
by Simon, Peter
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], 2001, Vol.1 (5), p.448-456
11.
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
by Robinson, B H
Pediatric research, 1990-11, Vol.28 (5), p.549-555
12.
Mitochondrial myopathies clinical, morphological and biochemical aspects
by SENGERS, R. C. A
European journal of pediatrics, 1984, Vol.141 (4), p.192-207
13.
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure
by EDERY, P
European journal of pediatrics, 1994, Vol.153 (3), p.190-194
14.
Nuclear genes and oxidative phosphorylation disorders: a review
by Smeitink, J.A.M
European journal of pediatrics, 2000, Vol.159 (S3), p.S227-S231
15.
Inheritable biotin-treatable disorders and associated phenomena
by SWEETMAN, L
Annual review of nutrition, 1986, Vol.6 (1), p.317-343
16.
The clinical and biochemical implications of pyruvate carboxylase deficiency
by DeVivo, D C
The journal of clinical endocrinology and metabolism, 1977-12, Vol.45 (6), p.1281-1296
17.
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis
by Robinson, B H
Pediatric research, 1980-08, Vol.14 (8), p.956-962
18.
Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase
by Robinson, B H
Journal of bioenergetics and biomembranes, 1988-06, Vol.20 (3), p.313-323
19.
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase
by Strömme, J H
Pediatric research, 1976-01, Vol.10 (1), p.62-66
20.
Prenatal treatment of biotin responsive multiple carboxylase deficiency
by Packman, S
The Lancet (British edition), 1982-06-26, Vol.1 (8287), p.1435-1438
