137 related articles for article (PubMed ID: 16168441)
1. A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.
Sciacco M; Prelle A; Fagiolari G; Bordoni A; Crimi M; Di Fonzo A; Ciscato P; Lamperti C; D'Adda E; Jann S; Bresolin N; Comi GP; Moggio M
J Neurol Sci; 2005 Dec; 239(1):21-4. PubMed ID: 16168441
[TBL] [Abstract][Full Text] [Related]
2. A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia.
Okamoto Y; Higuchi I; Sakiyama Y; Tokunaga S; Watanabe O; Arimura K; Nakagawa M; Takashima H
Ann Neurol; 2011 Sep; 70(3):486-92. PubMed ID: 21905081
[TBL] [Abstract][Full Text] [Related]
3. Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency.
Kottlors M; Jaksch M; Ketelsen UP; Weiner S; Glocker FX; Lücking CH
Neuromuscul Disord; 2001 Nov; 11(8):757-9. PubMed ID: 11595519
[TBL] [Abstract][Full Text] [Related]
4. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury.
Akar HT; Yıldız Y; Mutluay R; Tekin E; Tokatlı A
CEN Case Rep; 2024 Apr; 13(2):81-85. PubMed ID: 37341884
[TBL] [Abstract][Full Text] [Related]
5. [Type II carnitine palmitoyl transferase deficiency complicated by acute respiratory failure].
Joutel A; Moulonguet A; Demaugre F; Janowski M; Lacroix-Jousselin C; Said G
Rev Neurol (Paris); 1993; 149(12):797-9. PubMed ID: 7997741
[TBL] [Abstract][Full Text] [Related]
6. Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.
Rafay MF; Murphy EG; McGarry JD; Kaufmann P; DiMauro S; Tein I
Can J Neurol Sci; 2005 Aug; 32(3):316-20. PubMed ID: 16225172
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency.
Martín MA; Rubio JC; del Hoyo P; García A; Bustos F; Campos Y; Cabello A; Culebras JM; Arenas J
Hum Mutat; 2000 Jun; 15(6):579-80. PubMed ID: 10862092
[TBL] [Abstract][Full Text] [Related]
8. Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells.
Villard J; Fischer A; Mandon G; Collombet JM; Taroni F; Mousson B
J Neurol Sci; 1996 Mar; 136(1-2):178-81. PubMed ID: 8815169
[TBL] [Abstract][Full Text] [Related]
9. [Recurrent paroxysmal myoglobinuria with acute renal insufficiency caused by muscular carnitine (palmitoyltransferase deficiency. A case].
Meunier J; Perrot D; Bret M; Pissere-Meunier J; Bouletreau P; Pasquier J; Carrier H; Berthillier G
Nouv Presse Med; 1982 Sep; 11(37):2767-71. PubMed ID: 7145668
[TBL] [Abstract][Full Text] [Related]
10. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O; Aguennouz M; Comi GP; Rodolico C; Autunno M; Bordoni A; Baratta S; Taroni F; Vita G; Toscano A
Neuromuscul Disord; 2007 Dec; 17(11-12):960-3. PubMed ID: 17651973
[TBL] [Abstract][Full Text] [Related]
11. [Silent exercise-induced enzymatic myopathies at rest in adults. A cause of confusion with fibromyalgia].
Dupond JL; de Wazières B; Monnier G; Closs F; Desmurs H
Presse Med; 1992 Jun; 21(21):974-8. PubMed ID: 1386455
[TBL] [Abstract][Full Text] [Related]
12. Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.
Oh SJ; Park KS; Ryan HF; Danon MJ; Lu J; Naini AB; DiMauro S
Muscle Nerve; 2006 Nov; 34(5):572-6. PubMed ID: 16881065
[TBL] [Abstract][Full Text] [Related]
13. Postinfectious Rhabdomyolysis in a 5-Year-Old Boy: When to Look a Little Deeper.
Garoufi A; Vartzelis G; Kossiva L; Katsarou E; Soldatou A
Pediatr Emerg Care; 2015 Dec; 31(12):851-2. PubMed ID: 25513977
[TBL] [Abstract][Full Text] [Related]
14. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
Lalani SR; Vladutiu GD; Plunkett K; Lotze TE; Adesina AM; Scaglia F
Arch Neurol; 2005 Feb; 62(2):317-20. PubMed ID: 15710863
[TBL] [Abstract][Full Text] [Related]
15. Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
Joshi PR; Deschauer M; Zierz S
Wien Klin Wochenschr; 2012 Dec; 124(23-24):851-4. PubMed ID: 23184072
[TBL] [Abstract][Full Text] [Related]
16. Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.
Vladutiu GD
Muscle Nerve; 1999 Jul; 22(7):949-51. PubMed ID: 10398218
[TBL] [Abstract][Full Text] [Related]
17. Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.
Deschauer M; Wieser T; Neudecker S; Lindner A; Zierz S
Neuromuscul Disord; 1999 Jul; 9(5):305-7. PubMed ID: 10407850
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
Greaves LC; Yu-Wai-Man P; Blakely EL; Krishnan KJ; Beadle NE; Kerin J; Barron MJ; Griffiths PG; Dickinson AJ; Turnbull DM; Taylor RW
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3340-6. PubMed ID: 20164463
[TBL] [Abstract][Full Text] [Related]
19. Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Spiegel R; Gomez EA; Akman HO; Krishna S; Horovitz Y; DiMauro S
Neuromuscul Disord; 2009 Mar; 19(3):207-11. PubMed ID: 19157875
[TBL] [Abstract][Full Text] [Related]
20. Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.
Carelli V; Barboni P; Zacchini A; Mancini R; Monari L; Cevoli S; Liguori R; Sensi M; Lugaresi E; Montagna P
J Neurol Sci; 1998 Oct; 160(2):183-8. PubMed ID: 9849804
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
