Orphan designation: Triheptanoin, Treatment of carnitine palmitoyltransferase II deficiency

Case Medical Research ◽

10.31525/cmr-de755c ◽

2019 ◽

Author(s):

Keyword(s):

Carnitine Palmitoyltransferase ◽

Orphan Designation ◽

Carnitine Palmitoyltransferase Ii

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Orphan designation: Triheptanoin, Treatment of carnitine palmitoyltransferase II deficiency

Case Medical Research ◽

10.31525/cmr-de5508 ◽

2019 ◽

Author(s):

Keyword(s):

Carnitine Palmitoyltransferase ◽

Orphan Designation ◽

Carnitine Palmitoyltransferase Ii

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Mitochondrial import and processing of rat liver carnitine palmitoyltransferase II defines the amino terminus of the mature protein. Possibility of differential modification of the rat and human isoforms

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)98636-9 ◽

1991 ◽

Vol 266 (23) ◽

pp. 15446-15449

Author(s):

N.F. Brown ◽

V. Esser ◽

A.D. Gonzalez ◽

C.T. Evans ◽

C.A. Slaughter ◽

...

Keyword(s):

Rat Liver ◽

Carnitine Palmitoyltransferase ◽

Amino Terminus ◽

Mature Protein ◽

Mitochondrial Import ◽

Carnitine Palmitoyltransferase Ii ◽

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Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)87006-5 ◽

1990 ◽

Vol 265 (18) ◽

pp. 10720-10725 ◽

Author(s):

K F Woeltje ◽

V Esser ◽

B C Weis ◽

A Sen ◽

W F Cox ◽

...

Keyword(s):

Rat Liver ◽

Carnitine Palmitoyltransferase ◽

Sequencing And Expression ◽

Carnitine Palmitoyltransferase Ii

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A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2017.04.008 ◽

2017 ◽

Vol 11 ◽

pp. 59-61 ◽

Author(s):

Kenji Yamada ◽

Ryosuke Bo ◽

Hironori Kobayashi ◽

Yuki Hasegawa ◽

Mako Ago ◽

...

Keyword(s):

Carnitine Palmitoyltransferase ◽

Acylcarnitine Analysis ◽

Carnitine Palmitoyltransferase Ii

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Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase and carnitine palmitoyltransferase II as potential control sites for ketogenesis during mitochondrion and peroxisome proliferation

Biochemical Pharmacology ◽

10.1016/s0006-2952(99)00004-0 ◽

1999 ◽

Vol 57 (9) ◽

pp. 1011-1019 ◽

Author(s):

Lise Madsen ◽

Alexis Garras ◽

Guillermina Asins ◽

Dolors Serra ◽

Fausto G Hegardt ◽

...

Keyword(s):

Carnitine Palmitoyltransferase ◽

Peroxisome Proliferation ◽

Potential Control ◽

Carnitine Palmitoyltransferase Ii

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Examining the Effect of Missing Data on the Acmg Newborn Screening Criteria of Least Consensus for Carnitine Palmitoyltransferase II Deficiency (CPTII)

Value in Health ◽

10.1016/j.jval.2018.04.885 ◽

2018 ◽

Vol 21 ◽

pp. S132

Author(s):

A Redlich ◽

B Rittenhouse

Keyword(s):

Missing Data ◽

Newborn Screening ◽

Carnitine Palmitoyltransferase ◽

Screening Criteria ◽

Carnitine Palmitoyltransferase Ii

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Identification by Mutagenesis of a Conserved Glutamate (Glu487) Residue Important for Catalytic Activity in Rat Liver Carnitine Palmitoyltransferase II

Journal of Biological Chemistry ◽

10.1074/jbc.m202914200 ◽

2002 ◽

Vol 277 (44) ◽

pp. 42219-42223 ◽

Author(s):

Guolu Zheng ◽

Jia Dai ◽

Gebre Woldegiorgis

Keyword(s):

Catalytic Activity ◽

Rat Liver ◽

Carnitine Palmitoyltransferase ◽

Carnitine Palmitoyltransferase Ii

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Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy

FEBS Letters ◽

10.1016/j.febslet.2005.02.050 ◽

2005 ◽

Vol 579 (10) ◽

pp. 2040-2044 ◽

Author(s):

Y. Chen ◽

H. Mizuguchi ◽

D. Yao ◽

M. Ide ◽

Y. Kuroda ◽

...

Keyword(s):

Carnitine Palmitoyltransferase ◽

Predisposing Factor ◽

Carnitine Palmitoyltransferase Ii

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Genetics of Carnitine Palmitoyltransferase II Deficiencies

Current Views of Fatty Acid Oxidation and Ketogenesis - Advances in Experimental Medicine and Biology ◽

10.1007/0-306-46818-2_39 ◽

2006 ◽

pp. 339-345 ◽

Author(s):

Thomas Wieser ◽

Marcus Deschauer ◽

Stephan Zierz

Keyword(s):

Carnitine Palmitoyltransferase ◽

Carnitine Palmitoyltransferase Ii

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Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy

Neurology ◽

10.1212/01.wnl.0000318283.42961.e9 ◽

2008 ◽

Vol 71 (4) ◽

pp. 260-264 ◽

Author(s):

C. R. Roe ◽

B-Z Yang ◽

H. Brunengraber ◽

D. S. Roe ◽

M. Wallace ◽

...

Keyword(s):

Diet Therapy ◽

Carnitine Palmitoyltransferase ◽

Carnitine Palmitoyltransferase Ii

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