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23. Ichthyosis and neutral lipid storage disease. Musumeci S; D'Agata A; Romano C; Patané R; Cutrona D Am J Med Genet; 1988 Feb; 29(2):377-82. PubMed ID: 3354610 [TBL] [Abstract][Full Text] [Related]
24. The syndrome of carnitine deficiency. Di Donato S; Cornelio F Riv Patol Nerv Ment; 1976 Aug; 97(4):181-5. PubMed ID: 1032033 [TBL] [Abstract][Full Text] [Related]
25. [Muscle carnitine deficiency: report of 8 cases with clinical, electromyographic, histochemical and biochemical studies]. Werneck LC; Di Mauro S Arq Neuropsiquiatr; 1985 Sep; 43(3):281-95. PubMed ID: 4091739 [TBL] [Abstract][Full Text] [Related]
26. [Carnitine deficiency and carnitine therapy]. Künnert B Z Gesamte Inn Med; 1988 Jan; 43(1):1-5. PubMed ID: 3281380 [TBL] [Abstract][Full Text] [Related]
27. Carnitine-deficient myopathy as a presentation of tyrosinemia type I. Nissenkorn A; Korman SH; Vardi O; Levine A; Katzir Z; Ballin A; Lerman-Sagie T J Child Neurol; 2001 Sep; 16(9):642-4. PubMed ID: 11575602 [TBL] [Abstract][Full Text] [Related]
28. Carnitine deficiency: clinical, morphological, and biochemical observations in a fatal case. Engel AG; Banker BQ; Eiben RM J Neurol Neurosurg Psychiatry; 1977 Apr; 40(4):313-22. PubMed ID: 874508 [TBL] [Abstract][Full Text] [Related]
29. Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. Handig I; Dams E; Taroni F; Van Laere S; de Barsy T; Willems P J Hum Genet; 1996 Mar; 97(3):291-3. PubMed ID: 8786066 [TBL] [Abstract][Full Text] [Related]
30. [Lipid myopathy: a heterogenic familial case]. Kuntzer T; Robert D; Cox J; Meier C; Schwartz A; Guelpa G; Pfister CE Schweiz Med Wochenschr; 1987 Dec; 117(50):2027-9. PubMed ID: 3433086 [TBL] [Abstract][Full Text] [Related]
31. Symptomatic lipid storage in carriers for the PNPLA2 gene. Janssen MC; van Engelen B; Kapusta L; Lammens M; van Dijk M; Fischer J; van der Graaf M; Wevers RA; Fahrleitner M; Zimmermann R; Morava E Eur J Hum Genet; 2013 Aug; 21(8):807-15. PubMed ID: 23232698 [TBL] [Abstract][Full Text] [Related]
32. Postpartum manifestation of a necrotising lipid storage myopathy associated with muscle carnitine deficiency. Köller H; Stoll G; Neuen-Jacob E J Neurol Neurosurg Psychiatry; 1998 Mar; 64(3):407-8. PubMed ID: 9527165 [No Abstract] [Full Text] [Related]
33. Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. Mongini T; Doriguzzi C; Palmucci L; De Francesco A; Bet L; Manfredi L; Ponzetto C; Bresolin N Eur Neurol; 1992; 32(3):170-6. PubMed ID: 1592075 [TBL] [Abstract][Full Text] [Related]
34. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Stanley CA Adv Pediatr; 1987; 34():59-88. PubMed ID: 3318304 [TBL] [Abstract][Full Text] [Related]
35. [Carnitine deficiency myopathy: a case of late diagnosis]. Rico Corral MA; de la Vega Vázquez JM; Holgado Silva C; Aznar Martín A; Zamora Madaría E An Med Interna; 2002 Aug; 19(8):415-8. PubMed ID: 12244790 [TBL] [Abstract][Full Text] [Related]
36. Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy. Campos Y; Huertas R; Bautista J; Gutiérrez E; Aparicio M; Lorenzo G; Segura D; Villanueva M; Cabello A; Alesso L Muscle Nerve; 1993 Jul; 16(7):778-81. PubMed ID: 8505934 [TBL] [Abstract][Full Text] [Related]
38. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Stanley CA; DeLeeuw S; Coates PM; Vianey-Liaud C; Divry P; Bonnefont JP; Saudubray JM; Haymond M; Trefz FK; Breningstall GN Ann Neurol; 1991 Nov; 30(5):709-16. PubMed ID: 1763895 [TBL] [Abstract][Full Text] [Related]
39. Lipid storage myopathy: successful treatment with propranolol. Martyn C; Jellinek EH; Webb JN Br Med J (Clin Res Ed); 1981 Jun; 282(6281):1997-9. PubMed ID: 6788163 [TBL] [Abstract][Full Text] [Related]