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Carnitine-acylcarnitine translocase deficiency.
Pande SV. Pande SV. Am J Med Sci. 1999 Jul;318(1):22-7. doi: 10.1097/00000441-199907000-00004. Am J Med Sci. 1999. PMID: 10408757 Review.
Carnitine-acylcarnitine translocase deficiency, like other defects of mitochondrial fatty acid oxidation, is an autosomal, recessively inherited disorder. ...
Carnitine-acylcarnitine translocase deficiency, like other defects of mitochondrial fatty acid oxidation, is an …
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-Versteeg AB, Poll-The BT. Lopriore E, et al. Eur J Pediatr. 2001 Feb;160(2):101-4. doi: 10.1007/s004310000644. Eur J Pediatr. 2001. PMID: 11271379 Review.
Carnitine-acylcarnitine translocase deficiency is a rare and life-threatening mitochondrial fatty acid beta-oxidation disorder. ...We performed an extensive analysis of all previously published cases in order to evaluate the clinical features and progn …
Carnitine-acylcarnitine translocase deficiency is a rare and life-threatening mitochondrial fatty acid beta-oxid …
Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
Gürbüz BB, Yılmaz DY, Özgül RK, Koşukcu C, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Gürbüz BB, et al. Turk J Pediatr. 2021;63(4):691-696. doi: 10.24953/turkjped.2021.04.017. Turk J Pediatr. 2021. PMID: 34449152 Free article.
BACKGROUND: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly lethal fatty acid oxidation (FAO) disorder caused by defective acylcarnitine transport across the mitochondrial membrane. ...
BACKGROUND: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare, autosomal recessive, and highly le …
33 results