Results 231 to 240 of about 100,000 (276)

Carnitine Deficiency: Primary and Secondary Syndromes

1997
Emerging literature has shown that carnitine deficiency may be frequently recognized in human and the list of disorders associated with carnitine deficiency is growing.
Giuseppe Famularo, Franco Matricardi, Eleonora Nucera, Gino Santini, Claudio De Simone   +4 more
openaire   +1 more source

Late onset primary systemic carnitine deficiency exacerbated by carnitine-free parenteral nutrition

Clinical Nutrition, 1992
We describe a 21-year-old male with previously normal plasma total and free carnitine levels who developed a deficiency manifest by decreased plasma and muscle total and free carnitine, decreased urine carnitine, severe hepatic steatosis, mediastinal lipomatosis, progressively impaired triglyceride clearance, myopathy and intermittent hypoglycemia ...
A L, Buchman, H V, Vinters, S, Diethelm, M E, Ament, M A, Verity   +4 more
openaire   +2 more sources

Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency

2013
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 muM, normal 20-55 muM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value.
de Boer, L., Kluijtmans, L.A.J., Kluijtmans, L.A.J., Morava, E., Morava, E.   +4 more
openaire  

[Analysis of blood carnitine profile and SLC22A5 gene variants in 17 neonates with Primary carnitine deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
W. Song, Sheng Ye, L. Zheng
semanticscholar   +1 more source

Transient ‘primary’ carnitine deficiency

Journal of Inherited Metabolic Disease, 1998
T, Lerman-Sagie, I, Meshulach, A, Gutman
openaire   +2 more sources

Cardiomyopathy associated with primary carnitine deficiency in adults: lack of complete response in patients with delayed treatment initiation.

Revista Española de Cardiología, 2023
B. Guerrero Cervera, Víctor José Donoso Trenado, Carlos Fernández-Sellers, Nieves Vila Clérigues, P. Correcher Medina, Esther Zorio   +5 more
semanticscholar   +1 more source

PRIMARY CARNITINE DEFICIENCY: THE EFFECT OF 4-PHENYLBUTYRIC ACID ON NATURAL MUTATIONS

Molecular Genetics and Metabolism, 2023
Marta Frigeni, F. Ingoglia, B. Balakrishnan, M. Pasquali, N. Longo   +4 more
semanticscholar   +1 more source

[A case of primary carnitine deficiency presenting with cholestasis, hepatomegaly, and hyperketonemia].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology, 2023
X. Zhang, J. Zhao, Y. Lu
semanticscholar   +1 more source

Systemic Primary Carnitine Deficiency (CDSP)

2023
Wladimir Bocca Vieira de Rezende Pinto, Paulo Victor Sgobbi Souza, Vinícius Lopes Braga, Igor Braga Farias, Acary Souza Bulle Oliveira   +4 more
openaire   +1 more source

Insulin stimulated upregulation of OCTN2 carnitine transporters is impaired in patients with Primary carnitine deficiency

bioRxiv
Rannvá Dahl, Tórur Sjúrðarson, Poula Paturson, A. Ingersen, Peter F. Andersen, Jonas E. M. Jørgensen, Elizabeth J. Simpson, Jan Rasmussen, Kasper Kyhl, Paul L. Greenhaff, F. Dela, S. Larsen, Clara Prats   +12 more
semanticscholar   +1 more source