scholarly journals Carnitine-acylcarnitine translocase deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Acylcarnitine Translocase

scholarly journals New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

2021 ◽  
Author(s):  
Bryony Ryder ◽  
Michal Inbar‐Feigenberg ◽  
Emma Glamuzina ◽  
Rebecca Halligan ◽  
Roshni Vara ◽  
...  
Keyword(s):  
Therapeutic Approaches ◽  
Acylcarnitine Translocase

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: Insights on treatment

1999 ◽  
Vol 22 (6) ◽  
pp. 733-739 ◽  
Author(s):  
R. Parini ◽  
F. Invernizzi ◽  
F. Menni ◽  
B. Garavaglia ◽  
D. Melotti ◽  
...  
Keyword(s):  
Medium Chain Triglyceride ◽  
Loading Test ◽  
Medium Chain ◽  
Acylcarnitine Translocase

scholarly journals Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation

Medicine ◽  
2017 ◽  
Vol 96 (45) ◽  
pp. e8549 ◽  
Author(s):  
Hui-ming Yan ◽  
Hao Hu ◽  
Aisha Ahmed ◽  
Bing-bing Feng ◽  
Jing Liu ◽  
...  
Keyword(s):  
Acylcarnitine Translocase

Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells

2005 ◽  
Vol 203 (2) ◽  
pp. 439-446 ◽  
Author(s):  
Gianfranco Peluso ◽  
Orsolina Petillo ◽  
Sabrina Margarucci ◽  
Pasquale Grippo ◽  
Mariarosa Anna Beatrice Melone ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Cells ◽  
Skeletal Muscle Cells ◽  
Acylcarnitine Translocase ◽  
Metabolic Signatures

PGC-1β regulates mouse carnitine–acylcarnitine translocase through estrogen-related receptor α

2012 ◽  
Vol 423 (4) ◽  
pp. 838-843 ◽  
Author(s):  
Mar Gacias ◽  
Albert Pérez-Martí ◽  
Magdalena Pujol-Vidal ◽  
Pedro F. Marrero ◽  
Diego Haro ◽  
...  
Keyword(s):  
Acylcarnitine Translocase ◽  
Estrogen Related Receptor

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis

1994 ◽  
Vol 17 (3) ◽  
pp. 271-274 ◽  
Author(s):  
M. Brivet ◽  
A. Slama ◽  
H. Ogier ◽  
A. Boutron ◽  
F. Demaugre ◽  
...  
Keyword(s):  
Complementation Analysis ◽  
Acylcarnitine Translocase
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