Results 211 to 220 of about 100,000 (276)

Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. [PDF]

BMJ Case Rep, 2018
Echaniz-Laguna A, Biancalana V, Gaignard P, Chanson JB.   +3 more
europepmc   +1 more source

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved? [PDF]

JIMD Rep, 2017
Rasmussen J, Hougaard DM, Sandhu N, Fjællegaard K, Petersen PR, Steuerwald U, Lund AM.   +6 more
europepmc   +1 more source

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. [PDF]

Eur J Hum Genet, 2017
Lahrouchi N, Lodder EM, Mansouri M, Tadros R, Zniber L, Adadi N, Clur SB, van Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR.   +11 more
europepmc   +1 more source

Primary carnitine deficiency in the Chinese.

Chinese medical journal, 2002
N L, Tang, J, Hui, L K, Law, K F, To, K L, Cheung, H N, Magnus, P M, Yuen, T F, Fok   +7 more
openaire   +1 more source

Abnormal carnitine concentrations in critical illness associated with compromised outcome. [PDF]

Crit Care
Lauwers C, Langouche L, Güiza Grandas F, Pardo E, Mebis L, Vander Perre S, Wouters P, Vermeersch P, Van den Berghe G, Gunst J, Casaer MP.   +10 more
europepmc   +1 more source

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Primary systemic carnitine deficiency

Neurology, 1981
[Methyl-3H]epsilon-N-trimethyl-L-lysine was administered to patients with primary systemic carnitine deficiency and to controls. In both groups, labeled carnitine appeared in blood and urine within 2 hours, and the specific radioactivity of urinary carnitine peaked between 2 and 6 hours.
C J, Rebouche, A G, Engel
openaire   +2 more sources

Phenotypic and molecular features of Thai patients with primary carnitine deficiency

Pediatrics International, 2022
Primary carnitine deficiency (PCD) is screened by expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) that can detect both affected neonates and mothers.
S. Liammongkolkul, Boonchai Boonyawat, C. Vijarnsorn, T. Tim-Aroon, P. Wasant, N. Vatanavicharn   +5 more
semanticscholar   +1 more source

Primary carnitine deficiency

Neurology, 1991
Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no cardiomyopathy. Uptake of carnitine by cultured fibroblasts was negligible in both patients. Vmax for carnitine transport was reduced to 50% of controls' value in the parents and one brother (who had
B, Garavaglia, G, Uziel, F, Dworzak, F, Carrara, S, DiDonato   +4 more
openaire   +2 more sources

Ventricular Fibrillation Caused by Primary Carnitine Deficiency

The Journal of Emergency Medicine, 2020
Primary carnitine deficiency (PCD) is a rare but potentially life-threatening genetic disorder if left untreated. Although some patients remain asymptomatic lifelong, a few patients present with hepatic encephalopathy, hypoglycemia, cardiomyopathy, dysrhythmia, and even sudden death.A 25-year-old woman with PCD collapsed suddenly while eating lunch ...
Chun-Chi, Lu, Chia-Wen, Chang, Yen-Hung, Wu, Jhong-Chin, Lin   +3 more
openaire   +2 more sources