scholarly journals Erratum: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

2017 ◽  
pp. 109-110
Author(s):  
Andrew C. Edmondson ◽  
Jennifer Salant ◽  
Lynne A. Ierardi-Curto ◽  
Can Ficicioglu
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Ii

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16 + C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

2017 ◽  
Vol 122 (3) ◽  
pp. 67-75 ◽  
Author(s):  
Go Tajima ◽  
Keiichi Hara ◽  
Miyuki Tsumura ◽  
Reiko Kagawa ◽  
Satoshi Okada ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
False Positivity ◽  
Carnitine Palmitoyltransferase Ii

scholarly journals Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency

2016 ◽  
pp. 93-97 ◽  
Author(s):  
Andrew C. Edmondson ◽  
Jennifer Salant ◽  
Lynne A. Ierardi-Curto ◽  
Can Ficicioglu
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Ii

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening

2018 ◽  
Vol 64 (2) ◽  
pp. 87-98 ◽  
Author(s):  
Go Tajima ◽  
Keiichi Hara ◽  
Miori Yuasa
Keyword(s):  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Ii

Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry

PEDIATRICS ◽  
2001 ◽  
Vol 107 (6) ◽  
pp. e103-e103 ◽  
Author(s):  
S. Albers ◽  
D. Marsden ◽  
E. Quackenbush ◽  
A. R. Stark ◽  
H. L. Levy ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Carnitine Palmitoyltransferase ◽  
Tandem Mass ◽  
Expanded Newborn Screening ◽  
Carnitine Palmitoyltransferase Ii

scholarly journals Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening. Should CPT II Deficiency Be a Primary Disease Target?

2021 ◽  
Vol 7 (3) ◽  
pp. 55
Author(s):  
Rachel Mador-House ◽  
Zaiping Liu ◽  
Sarah Dyack
Keyword(s):  
Newborn Screening ◽  
Early Onset ◽  
Screening Program ◽  
Carnitine Palmitoyltransferase ◽  
Positive Case ◽  
Metabolic Decompensation ◽  
Mass Spectrometry Identification ◽  
Expanded Newborn Screening ◽  
Carnitine Palmitoyltransferase Ii ◽  
Cpt Ii Deficiency

Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT II deficiency identified through expanded newborn screening with tandem mass spectrometry. Identification through newborn screening led to early treatment interventions, avoidance of metabolic decompensation, and a better clinical outcome. Newborn screening for CPT II deficiency is highly sensitive and specific with no false positives identified. The only screen positive case detected identified a true positive case. This experience illustrates the importance of newborn screening for CPT II deficiency and demonstrates why reconsideration should be taken to add this disease as a primary newborn screening target.

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

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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