Results 31 to 40 of about 33,228 (280)

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening. [PDF]

Orphanet J Rare Dis, 2022
Lin Y, Lin B, Chen Y, Zheng Z, Fu Q, Lin W, Zhang W.   +6 more
europepmc   +3 more sources

Functional and molecular studies in primary carnitine deficiency. [PDF]

Hum Mutat, 2017
Primary carnitine deficiency is caused by a defect in the OCTN2 carnitine transporter encoded by the SLC22A5 gene. It can cause hypoketotic hypoglycemia or cardiomyopathy in children, and sudden death in children and adults. Fibroblasts from affected patients have reduced carnitine transport.
Frigeni M, Balakrishnan B, Yin X, Calderon FRO, Mao R, Pasquali M, Longo N.   +6 more
europepmc   +4 more sources

A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency. [PDF]

Mol Syndromol, 2023
Basan H, Azak E, Çetin İİ, Kiliç E, Bilginer Gürbüz B, Özbey SZ, Kasapkara ÇS.   +6 more
europepmc   +3 more sources

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study. [PDF]

J Med Genet, 2023
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M.   +17 more
europepmc   +3 more sources

Primary Carnitine Deficiency [PDF]

, 2020
National Cancer Institute
openalex   +2 more sources

Unraveling cardiomyocyte responses and intercellular communication alterations in primary carnitine deficiency cardiomyopathy via single-nucleus RNA sequencing. [PDF]

Heliyon
Yin Y, Ye L, Chen M, Liu H, Miao J.
europepmc   +3 more sources

Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach. [PDF]

J Inherit Metab Dis, 2022
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B.   +5 more
europepmc   +2 more sources

General anesthesia with cisatracurium and sevoflurane for a patient with primary carnitine deficiency receiving L-carnitine therapy: A case report. [PDF]

Medicine (Baltimore), 2021
Ai L, Fang Y.
europepmc   +2 more sources

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Zhi H, Chang S, Chen T, Liang L, Qiu W, Zhang H, Gu X, Han L.   +7 more
europepmc   +5 more sources

Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel disease mechanism

, 2022
Loos M, Klampe B, Schulze T, Yin X, Theofilatos K, Ulmer B, Schulz C, Behrens C, Bergen TV, Adami E, Maatz H, Schweizer M, Brodesser S, Skryabin B, Rozhdestvensky T, Bodbin S, Christ T, Denning C, Huebner N, Mayr M, Eschenhagen T, Hansen A.   +21 more
europepmc   +2 more sources