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Results: 1 to 20 of 131

1.

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.

Geoffroy V, Fouque F, Benelli C, Poggi F, Saudubray JM, Lissens W, Meirleir LD, Marsac C, Lindsay JG, Sanderson SJ.

Pediatrics. 1996 Feb;97(2):267-72. No abstract available.

PMID:
8584393
[PubMed - indexed for MEDLINE]
2.

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW.

J Clin Invest. 1990 Jun;85(6):1821-4.

PMID:
2112155
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.

Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y.

Pediatr Res. 1994 Sep;36(3):340-6.

PMID:
7808831
[PubMed - indexed for MEDLINE]
4.

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.

Brown GK, Scholem RD, Hunt SM, Harrison JR, Pollard AC.

J Inherit Metab Dis. 1987;10(4):359-66.

PMID:
3126355
[PubMed - indexed for MEDLINE]
5.

Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.

Ito M, Kobashi H, Naito E, Saijo T, Takeda E, Huq AH, Kuroda Y.

Clin Chim Acta. 1992 Jul 31;209(1-2):1-7.

PMID:
1327585
[PubMed - indexed for MEDLINE]
6.

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA.

Eur J Pediatr. 1990 Apr;149(7):487-92. Review.

PMID:
2189731
[PubMed - indexed for MEDLINE]
7.

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.

Otero LJ, Brown GK, Silver K, Arnold DL, Matthews PM.

Pediatr Neurol. 1995 Nov;13(4):327-32.

PMID:
8771169
[PubMed - indexed for MEDLINE]
8.

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.

de Meirleir LJ, Lissens W, Vamos E, Liebaers I.

J Inherit Metab Dis. 1991;14(3):301-4. No abstract available.

PMID:
1770778
[PubMed - indexed for MEDLINE]
9.

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL.

Pediatr Neurol. 1994 Oct;11(3):224-9.

PMID:
7880337
[PubMed - indexed for MEDLINE]
10.

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.

Federico A, Dotti MT, Fabrizi GM, Palmeri S, Massimo L, Robinson BH, Malandrini A, Guazzi GC.

Eur Neurol. 1990;30(3):123-7.

PMID:
2162773
[PubMed - indexed for MEDLINE]
11.

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.

Brown GK, Haan EA, Kirby DM, Scholem RD, Wraith JE, Rogers JG, Danks DM.

Eur J Pediatr. 1988 Jan;147(1):10-4.

PMID:
3123240
[PubMed - indexed for MEDLINE]
12.

Immunochemical evidence of pyruvate dehydrogenase (E1) deficiency.

Kitano A, Akaboshi I, Endo F, Matsuda I, Okano Y, Hase Y, Nagao Y, Kamoshita S, Miyabayashi S, Narisawa K.

J Inherit Metab Dis. 1988;11(3):329-32. No abstract available.

PMID:
3148083
[PubMed - indexed for MEDLINE]
13.

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.

Birch-Machin MA, Shepherd IM, Solomon M, Yeaman SJ, Gardner-Medwin D, Sherratt HS, Lindsay JG, Aynsley-Green A, Turnbull DM.

J Inherit Metab Dis. 1988;11(2):207-17.

PMID:
3139934
[PubMed - indexed for MEDLINE]
14.

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.

Marsac C, Stansbie D, Bonne G, Cousin J, Jehenson P, Benelli C, Leroux JP, Lindsay G.

J Pediatr. 1993 Dec;123(6):915-20.

PMID:
8229524
[PubMed - indexed for MEDLINE]
15.

Investigation of enzyme defects in children with lactic acidosis.

Merinero B, Pérez-Cerda C, Ugarte M.

J Inherit Metab Dis. 1992;15(5):696-706.

PMID:
1331606
[PubMed - indexed for MEDLINE]
16.

[Evaluation of a rapid diagnosis of congenital lactic acidemia by transported peripheral blood samples].

Kobashi H, Naito E, Kuroda Y.

No To Hattatsu. 1989 May;21(3):227-33. Japanese.

PMID:
2544213
[PubMed - indexed for MEDLINE]
17.

Anaesthesia in pyruvate dehydrogenase deficiency.

Acharya D, Dearlove OR.

Anaesthesia. 2001 Aug;56(8):808-9. No abstract available.

PMID:
11493256
[PubMed - indexed for MEDLINE]
18.

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.

Wicking CA, Scholem RD, Hunt SM, Brown GK.

Biochem J. 1986 Oct 1;239(1):89-96.

PMID:
3800988
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].

Merinero Cortés B, del Valle Martínez J, Pérez-Cerdá Silvestre C, García Muñoz MJ, Cortés Coto MT, García Aparicio J, Sáez Pérez E, Ugarte Pérez M.

An Esp Pediatr. 1988 Jul;29(1):57-60. Review. Spanish. Erratum in: An Esp Pediatr 1988 Dec;29(6):488.

PMID:
3142324
[PubMed - indexed for MEDLINE]
20.

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.

Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Kuroda Y.

J Neurol Sci. 2002 Sep 15;201(1-2):33-7.

PMID:
12163191
[PubMed - indexed for MEDLINE]

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