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Journal of Human Genetics, ISSN 1434-5161, 02/2019, Volume 64, Issue 2, pp. 87 - 98
Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder. Its clinical phenotypes are... 
GENE-MUTATIONS | HETEROGENEITY | ADULT FORM | CPT-II | GENETICS & HEREDITY | PHENOTYPE | PATIENT | JAPANESE PATIENTS | IDENTIFICATION | BIOCHEMICAL-ANALYSIS | MOLECULAR ANALYSIS | Metabolism, Inborn Errors - diagnosis | Prognosis | Humans | Neonatal Screening - methods | Metabolism, Inborn Errors - enzymology | Carnitine O-Palmitoyltransferase - deficiency | Infant, Newborn
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 05/2014, Volume 448, Issue 2, pp. 175 - 181
Journal Article
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, ISSN 1388-1981, 01/2016, Volume 1861, Issue 1, pp. 34 - 40
Canitine palmitoyltransferases (CPT), located both in the outer (CPT I) and inner membrane (CPT II) of mitochondria, are the key players for an efficient... 
DECARBOXYLASE | CPT-II | RAT | BIOCHEMISTRY & MOLECULAR BIOLOGY | MITOCHONDRIA | HUMAN SKELETAL-MUSCLE | DEFICIENCY | CELL BIOLOGY | ENZYME | BIOPHYSICS | DEACETYLATION | CARNITINE PALMITOYLTRANSFERASE | EXPRESSION
Journal Article
BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 01/2016, Volume 1861, Issue 1, pp. 34 - 40
Carnitine palmitoyltransferases (CPT), located both in the outer (CPT I) and inner membrane (CPT II) of mitochondria, are the key players for an efficient... 
Enzymes | Fatty acids | Analysis | Carnitine | Metabolites
Journal Article
International journal of molecular sciences, ISSN 1661-6596, 03/2019, Volume 20, Issue 6, p. 1400
Fibroblast growth factor 21 (FGF-21) is known to be a biomarker for mitochondrial disorders. An upregulation of FGF-21 in serum and muscle of carnitine... 
mitochondrial diseases | FGF-21 | biomarker | carnitine palmitoyltransferase II deficiency | MITOCHONDRIAL CONTENT | SKELETAL-MUSCLE | FATTY-ACID OXIDATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | EXPRESSION | CHEMISTRY, MULTIDISCIPLINARY | FGF21
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 01/2017, Volume 18, Issue 1, pp. 82 - 82
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 01/2019, Volume 59, pp. 32 - 36
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0119936
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016, Volume 26, pp. S199 - S199
Journal Article
American Journal of Clinical Pathology, ISSN 0002-9173, 10/2015, Volume 144, Issue suppl_2, pp. A013 - A013
The recurrence of multicystic kidneys and hepatosteatosis, with the addition of cardiac anomalies in the second infant, led to a differential diagnosis of CPT... 
Babies | Neonates | Cysts | Mutation | Palmitoyltransferase | Carnitine palmitoyltransferase | Metabolic disorders | Carnitine
Journal Article
Acute Medicine & Surgery, ISSN 2052-8817, 01/2019, Volume 6, Issue 1, pp. 25 - 29
Aim In serious heatstroke, elevated body temperature (>40°C) is considered the main cause of illness. Mitochondrial carnitine palmitoyltransferase II (CPT II)... 
heatstroke | Carnitine palmitoyltransferase II | polymorphism | coagulopathy | energy metabolism | Genotype & phenotype | Heatstroke | Body temperature | Adenosine triphosphate | Polymorphism
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2013, Volume 338, Issue 1, pp. 107 - 111
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e135 - e135
Journal Article