(Q43986112)

28 November 2017

title

Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry (English)

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carnitine palmitoyltransferase II deficiency

28 November 2017

main subject

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author

Hanns Lochmüller

4

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28 November 2017

K Gempel

1

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28 November 2017

S Kiechl

2

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28 November 2017

S Hofmann

3

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28 November 2017

U Kiechl-Kohlendorfer

5

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28 November 2017

J Willeit

6

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28 November 2017

W Sperl

7

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28 November 2017

A Rettinger

8

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28 November 2017

I Bieger

9

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28 November 2017

D Pongratz

10

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28 November 2017

K D Gerbitz

11

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M F Bauer

12

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28 November 2017

publication date

1 February 2002

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Journal of Inherited Metabolic Disease

28 November 2017

published in

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28 November 2017

volume

25

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28 November 2017

issue

1

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28 November 2017

page(s)

17-27

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Defects in activation and transport of fatty acids

28 November 2017

cites work

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12 December 2020

Carnitine-acylcarnitine translocase deficiency is a treatable disease

1 reference

12 December 2020

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy

1 reference

12 December 2020

Sensitive assay of carnitine palmitoyl transferase activity in tissue homogenates with a modified spectrophotometric method for enzymatic carnitine determination

1 reference

12 December 2020

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

1 reference

12 December 2020

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

1 reference

12 December 2020

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1 reference

12 December 2020

Carnitine palmitoyltransferase deficiencies

1 reference

12 December 2020

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family

1 reference

12 December 2020

Muscular carnitine palmitoyltransferase II deficiency in infancy

1 reference

12 December 2020

Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma

1 reference

12 December 2020

Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry

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12 December 2020

Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria

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12 December 2020

Mammalian mitochondrial beta-oxidation

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12 December 2020

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

1 reference

12 December 2020

A Skeletal-Muscle Disorder Associated with Intermittent Symptoms and a Possible Defect of Lipid Metabolism

1 reference

12 December 2020

Kinetic investigation of carnitine palmitoyltransferases in homogenates of human skeletal muscle using L-amino-carnitine and malonyl-CoA

1 reference

12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

12 December 2020

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle

1 reference

12 December 2020

Adult carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

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12 December 2020

Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper

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12 December 2020

Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency

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12 December 2020

Identifiers

DOI

10.1023/A:1015109127986

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Dimensions Publication ID

28 November 2017

1030436204

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