Literature DB >> 2044592

Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

J V Leonard1, K Hyland, N Furukawa, P T Clayton.   

Abstract

The sibling of a patient in whom a diagnosis of phosphoenolpyruvate carboxykinase had been made developed a similar clinical illness with liver failure. However the activity of phosphoenolpyruvate carboxykinase in leucocytes and fibroblasts was normal. Phosphoenolpyruvate carboxykinase is not the primary defect in this family.

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Year:  1991        PMID： 2044592     DOI： 10.1007/bf01963566

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  5 in total

1.  Mitochondrial phosphoenolpyruvate carboxykinase deficiency.

Authors:  P T Clayton; K Hyland; M Brand; J V Leonard
Journal:  Eur J Pediatr       Date:  1986-04       Impact factor: 3.183

2.  Human mitochondrial electron transport chain: assay of succinate: cytochrome c reductase in leukocytes, platelets and cultured fibroblasts.

Authors:  D A Stumpf; J K Parks
Journal:  Biochem Med       Date:  1981-04

3.  Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leukocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.

Authors:  B M Atkin; M F Utter; M B Weinberg
Journal:  Pediatr Res       Date:  1979-01       Impact factor: 3.756

4.  Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation.

Authors:  K Hyland; J V Leonard
Journal:  Clin Chim Acta       Date:  1983-09-30       Impact factor: 3.786

5.  Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.

Authors:  S DiMauro; J F Nicholson; A P Hays; A B Eastwood; A Papadimitriou; R Koenigsberger; D C DeVivo
Journal:  Ann Neurol       Date:  1983-08       Impact factor: 10.422
  5 in total
  9 in total

Review 1.  The mitochondrial isoform of phosphoenolpyruvate carboxykinase (PEPCK-M) and glucose homeostasis: has it been overlooked?

Authors:  Romana Stark; Richard G Kibbey
Journal:  Biochim Biophys Acta       Date:  2013-10-28

Review 2.  Disorders of gluconeogenesis.

Authors:  G van den Berghe
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Early-onset fatal encephalomyopathy associated with severe mtDNA depletion.

Authors:  V Paquis-Flucklinger; J F Pellissier; J Camboulives; B Chabrol; A Saunières; M F Monfort; H Giudicelli; C Desnuelle
Journal:  Eur J Pediatr       Date:  1995-07       Impact factor: 3.183

4.  Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Authors:  A G Bodnar; J M Cooper; I J Holt; J V Leonard; A H Schapira
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

5.  Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication.

Authors:  A G Bodnar; J M Cooper; J V Leonard; A H Schapira
Journal:  Biochem J       Date:  1995-02-01       Impact factor: 3.857

6.  Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression.

Authors:  S Modaressi; K Brechtel; B Christ; K Jungermann
Journal:  Biochem J       Date:  1998-07-15       Impact factor: 3.857

7.  The Proteomic Analysis of Human Placenta with Pre-eclampsia and Normal Pregnancy.

Authors:  Jeong In Yang; Tae Wook Kong; Haeng Soo Kim; Ho Yeon Kim
Journal:  J Korean Med Sci       Date:  2015-05-13       Impact factor: 2.153

8.  Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED).

Authors:  Jasmin Nessler; Petra Hug; Paul J J Mandigers; Peter A J Leegwater; Vidhya Jagannathan; Anibh M Das; Marco Rosati; Kaspar Matiasek; Adrian C Sewell; Marion Kornberg; Marina Hoffmann; Petra Wolf; Andrea Fischer; Andrea Tipold; Tosso Leeb
Journal:  Genes (Basel)       Date:  2020-07-09       Impact factor: 4.096

Review 9.  Hypoglycaemia Metabolic Gene Panel Testing.

Authors:  Arianna Maiorana; Francesca Romana Lepri; Antonio Novelli; Carlo Dionisi-Vici
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-29       Impact factor: 5.555
  9 in total

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