147 related articles for article (PubMed ID: 31642628)
1. [Pyruvate dehydrogenase deficiency].
Pedersen S; Bliksrud YT; Selmer KK; Ramm-Pettersen A
Tidsskr Nor Laegeforen; 2019 Oct; 139(15):. PubMed ID: 31642628
[TBL] [Abstract][Full Text] [Related]
2. Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Kinoshita H; Sakuragawa N; Tada H; Naito E; Kuroda Y; Nonaka I
J Child Neurol; 1997 Feb; 12(2):141-4. PubMed ID: 9075024
[No Abstract] [Full Text] [Related]
3. Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
Naito E; Ito M; Yokota I; Saijo T; Chen S; Maehara M; Kuroda Y
J Neurol Sci; 1999 Dec; 171(1):56-9. PubMed ID: 10567050
[TBL] [Abstract][Full Text] [Related]
4. Pyruvate dehydrogenase deficiency and epilepsy.
Prasad C; Rupar T; Prasad AN
Brain Dev; 2011 Nov; 33(10):856-65. PubMed ID: 21908116
[TBL] [Abstract][Full Text] [Related]
5. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Di Rocco M; Lamba LD; Minniti G; Caruso U; Naito E
Eur J Paediatr Neurol; 2000; 4(3):115-7. PubMed ID: 10872106
[TBL] [Abstract][Full Text] [Related]
6. [Pyruvate dehydrogenase complex deficiency].
Naito E
Nihon Rinsho; 2002 Apr; 60 Suppl 4():751-4. PubMed ID: 12013991
[No Abstract] [Full Text] [Related]
7. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Naito E; Ito M; Yokota I; Saijo T; Matsuda J; Ogawa Y; Kitamura S; Takada E; Horii Y; Kuroda Y
Biochim Biophys Acta; 2002 Oct; 1588(1):79-84. PubMed ID: 12379317
[TBL] [Abstract][Full Text] [Related]
8. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Sperl W; Fleuren L; Freisinger P; Haack TB; Ribes A; Feichtinger RG; Rodenburg RJ; Zimmermann FA; Koch J; Rivera I; Prokisch H; Smeitink JA; Mayr JA
J Inherit Metab Dis; 2015 May; 38(3):391-403. PubMed ID: 25526709
[TBL] [Abstract][Full Text] [Related]
9. Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Harada M; Tanouchi M; Arai K; Nishitani H; Miyoshi H; Hashimoto T
Magn Reson Imaging; 1996; 14(1):129-33. PubMed ID: 8656986
[TBL] [Abstract][Full Text] [Related]
10. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Chabrol B; Mancini J; Benelli C; Gire C; Munnich A
J Child Neurol; 1994 Jan; 9(1):52-5. PubMed ID: 8151084
[TBL] [Abstract][Full Text] [Related]
11. An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
Horton L; Henry M; Conway R; Kumar B
Clin Pediatr (Phila); 2021 Sep; 60(9-10):432-436. PubMed ID: 34247546
[No Abstract] [Full Text] [Related]
12. Remembering MUDPILES: A Case of Unexplained Metabolic Acidosis.
Suntum T; Allen N; Pagano S; Jaworski ML; Duncan L; Lee CC
Hosp Pediatr; 2017 Jun; 7(6):357-360. PubMed ID: 28487291
[No Abstract] [Full Text] [Related]
13. 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. PubMed ID: 7808831
[TBL] [Abstract][Full Text] [Related]
14. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Wijburg FA; Barth PG; Bindoff LA; Birch-Machin MA; van der Blij JF; Ruitenbeek W; Turnbull DM; Schutgens RB
Neuropediatrics; 1992 Jun; 23(3):147-52. PubMed ID: 1641082
[TBL] [Abstract][Full Text] [Related]
15. Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
Hemalatha SG; Kerr DS; Wexler ID; Lusk MM; Kaung M; Du Y; Kolli M; Schelper RL; Patel MS
Hum Mol Genet; 1995 Feb; 4(2):315-8. PubMed ID: 7757088
[No Abstract] [Full Text] [Related]
16. Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency.
Chida R; Shimura M; Nishimata S; Kashiwagi Y; Kawashima H
Pediatr Int; 2018 Nov; 60(11):1041-1042. PubMed ID: 30407699
[No Abstract] [Full Text] [Related]
17. [Clinical and biochemical approach to mitochondrial cytopathy--pyruvate dehydrogenase complex deficiency].
Miyabayashi S; Narisawa K
No To Hattatsu; 1987 Mar; 19(2):125-31. PubMed ID: 3103656
[No Abstract] [Full Text] [Related]
18. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Debray FG; Lambert M; Gagne R; Maranda B; Laframboise R; MacKay N; Robinson BH; Mitchell GA
Neuropediatrics; 2008 Feb; 39(1):20-3. PubMed ID: 18504677
[TBL] [Abstract][Full Text] [Related]
19. Anesthesia in pyruvate dehydrogenase deficiency.
Milojevic I; Simic D
Paediatr Anaesth; 2008 Aug; 18(8):794-5. PubMed ID: 18435697
[No Abstract] [Full Text] [Related]
20. Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni C; Verrigni D; Okuma C; Diaz A; Alvarez K; Rizza T; Carrozzo R; Bertini E; Miranda M
Eur J Paediatr Neurol; 2015 Sep; 19(5):497-503. PubMed ID: 26008863
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
