157 related articles for article (PubMed ID: 9367300)
1. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
García-Silva MT; Ribes A; Campos Y; Garavaglia B; Arenas J
Pediatr Neurol; 1997 Sep; 17(2):165-70. PubMed ID: 9367300
[TBL] [Abstract][Full Text] [Related]
2. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.
García-Silva MT; Campos Y; Ribes A; Briones P; Cabello A; Santos Borbujo J; Arenas J; Garavaglia B
J Pediatr; 1994 Nov; 125(5 Pt 1):843-4. PubMed ID: 7965445
[No Abstract] [Full Text] [Related]
3. The role of methionine in ethylmalonic encephalopathy with petechiae.
McGowan KA; Nyhan WL; Barshop BA; Naviaux RK; Yu A; Haas RH; Townsend JJ
Arch Neurol; 2004 Apr; 61(4):570-4. PubMed ID: 15096407
[TBL] [Abstract][Full Text] [Related]
4. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
Burlina AB; Dionisi-Vici C; Bennett MJ; Gibson KM; Servidei S; Bertini E; Hale DE; Schmidt-Sommerfeld E; Sabetta G; Zacchello F
J Pediatr; 1994 Jan; 124(1):79-86. PubMed ID: 8283379
[TBL] [Abstract][Full Text] [Related]
5. Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L; Garone G; Schettini L; Giordano C; Nicita F; Papoff P; Zeviani M; Leuzzi V; Spalice A
Metab Brain Dis; 2015 Dec; 30(6):1537-45. PubMed ID: 26194623
[TBL] [Abstract][Full Text] [Related]
6. Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome.
Zafeiriou DI; Koletzko B; Mueller-Felber W; Paetzke I; Kueffer G; Jensen M
Brain Dev; 1995; 17(2):117-21. PubMed ID: 7625545
[TBL] [Abstract][Full Text] [Related]
7. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.
Bulut FD; Kör D; Şeker-Yılmaz B; Gül-Mert G; Kılavuz S; Önenli-Mungan N
Metab Brain Dis; 2018 Jun; 33(3):977-979. PubMed ID: 29159724
[TBL] [Abstract][Full Text] [Related]
8. Leigh syndrome in an infant resulting from mitochondrial DNA depletion.
Absalon MJ; Harding CO; Fain DR; Li L; Mack KJ
Pediatr Neurol; 2001 Jan; 24(1):60-3. PubMed ID: 11182283
[TBL] [Abstract][Full Text] [Related]
9. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M; Ottolenghi C; Hubert L; Chrétien D; Serre V; Gobin S; Romano S; Vassault A; Sefiani A; Ricquier D; Boddaert N; Brivet M; de Keyzer Y; Munnich A; Duran M; Rabier D; Valayannopoulos V; de Lonlay P
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S443-53. PubMed ID: 20978941
[TBL] [Abstract][Full Text] [Related]
10. An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.
Pavlou E; Augoustides-Savvopoulou P; Gregersen N; Haas D; Gkampeta A; Athanassiadou-Piperopoulou F
J Child Neurol; 2013 May; 28(5):668-71. PubMed ID: 22805253
[TBL] [Abstract][Full Text] [Related]
11. Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.
Ozand PT; Rashed M; Millington DS; Sakati N; Hazzaa S; Rahbeeni Z; al Odaib A; Youssef N; Mazrou A; Gascon GG
Brain Dev; 1994 Nov; 16 Suppl():12-22. PubMed ID: 7726376
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Bruno C; Biancheri R; Garavaglia B; Biedi C; Rossi A; Lamba LD; Bado M; Greco M; Zeviani M; Minetti C
J Child Neurol; 2002 Mar; 17(3):233-6. PubMed ID: 12026244
[TBL] [Abstract][Full Text] [Related]
13. Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies.
Nagai T; Goto Y; Matsuoka T; Sakuta R; Naito E; Kuroda Y; Nonaka I
Pediatr Neurol; 1992; 8(5):328-32. PubMed ID: 1329789
[TBL] [Abstract][Full Text] [Related]
14. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
Hung PC; Wang HS
Dev Med Child Neurol; 2007 Jan; 49(1):65-7. PubMed ID: 17209980
[TBL] [Abstract][Full Text] [Related]
15. [The molecular background of Leigh syndrome].
Piekutowska-Abramczuk D
Neurol Neurochir Pol; 2008; 42(3):238-50. PubMed ID: 18651330
[TBL] [Abstract][Full Text] [Related]
16. Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy.
Haginoya K; Miyabayashi S; Iinuma K; Okino E; Maesaka H; Tada K
Pediatr Neurol; 1992; 8(1):13-8. PubMed ID: 1313674
[TBL] [Abstract][Full Text] [Related]
17. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
Moslemi AR; Tulinius M; Darin N; Aman P; Holme E; Oldfors A
Neurology; 2003 Oct; 61(7):991-3. PubMed ID: 14557577
[TBL] [Abstract][Full Text] [Related]
18. Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation.
Peake RWA; Rodan LH
Clin Chem; 2017 Nov; 63(11):1771-1773. PubMed ID: 29089323
[No Abstract] [Full Text] [Related]
19. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
Tulinius M; Moslemi AR; Darin N; Westerberg B; Wiklund LM; Holme E; Oldfors A
Neuropediatrics; 2003 Apr; 34(2):87-91. PubMed ID: 12776230
[TBL] [Abstract][Full Text] [Related]
20. Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency.
Savasta S; Comi GP; Perini MP; Lupi A; Strazzer S; Rognoni F; Rossoni R
J Child Neurol; 2001 Aug; 16(8):608-13. PubMed ID: 11510937
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]