175 related articles for article (PubMed ID: 7965445)
1. 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]
2. 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]
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. Biochemical and molecular aspects of cytochrome C oxidase deficiency.
DiMauro S; Zeviani M; Servidei S; Prelle A; Miranda AF; Bonilla E; Schon EA
Adv Neurol; 1988; 48():93-105. PubMed ID: 2825476
[No Abstract] [Full Text] [Related]
5. 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]
6. Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
Garavaglia B; Colamaria V; Carrara F; Tonin P; Rimoldi M; Uziel G
J Inherit Metab Dis; 1994; 17(3):301-3. PubMed ID: 7807937
[No 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. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.
Müller-Höcker J; Pongratz D; Deufel T; Trijbels JM; Endres W; Hübner G
Virchows Arch A Pathol Anat Histopathol; 1983; 399(1):11-23. PubMed ID: 6298999
[TBL] [Abstract][Full Text] [Related]
9. Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
Hoffmann GF; Hunneman DH; Jakobs C; Wilichowski E; Eber SW; Hanefeld F; Rating D; Reichmann H
J Inherit Metab Dis; 1990; 13(3):337-40. PubMed ID: 2172644
[No Abstract] [Full Text] [Related]
10. Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.
Lehnert W; Ruitenbeek W
J Inherit Metab Dis; 1993; 16(3):557-9. PubMed ID: 7609451
[No Abstract] [Full Text] [Related]
11. [Mitochondrial myopathy associated with cytochrome oxidase deficiency].
Sengers RC; Trijbels JM; Ruitenbeek W; Bakkeren JA
Tijdschr Kindergeneeskd; 1984 Aug; 52(4):159-64. PubMed ID: 6093282
[TBL] [Abstract][Full Text] [Related]
12. Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers.
Elias E; Gray RG; Poulton K; Green A
J Hepatol; 1997 Feb; 26(2):433-6. PubMed ID: 9059968
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
Dweikat I; Naser E; Damsah N; Libdeh BA; Bakri I
Metab Brain Dis; 2012 Dec; 27(4):613-6. PubMed ID: 22584649
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.
Brivet M; Tardieu M; Khellaf A; Boutron A; Rocchiccioli F; Haengeli CA; Lemonnier A
J Inherit Metab Dis; 1991; 14(3):333-7. PubMed ID: 1770786
[No Abstract] [Full Text] [Related]
17. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
Sewell AC; Herwig J; Böhles H; Rinaldo P; Bhala A; Hale DE
Eur J Pediatr; 1993 Nov; 152(11):922-4. PubMed ID: 8276024
[TBL] [Abstract][Full Text] [Related]
18. [Myopathy with lipid accumulation and type-II glutaric aciduria].
Tomelleri G; Burlina A; Deotto L; Orrico D; Tonin P; Rizzuto N
Minerva Pediatr; 1991 Mar; 43(3):105. PubMed ID: 1870502
[No Abstract] [Full Text] [Related]
19. Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A; Hong KM; Pandithan D; Allen M; Killick C; Goergen S; Springer A; Phelan D; Marty M; Halligan R; Lee J; Pitt J; Chong B; Christodoulou J; Lunke S; Stark Z; Fahey M
Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35165146
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
