(Q44519978)

3 December 2017

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening (English)

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3-methylcrotonyl-CoA carboxylase deficiency

3 December 2017

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author name string

D D Koeberl

1

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3 December 2017

D S Millington

2

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3 December 2017

W E Smith

3

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3 December 2017

S D Weavil

4

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3 December 2017

J Muenzer

5

1 reference

3 December 2017

S E McCandless

6

1 reference

3 December 2017

P S Kishnani

7

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3 December 2017

M T McDonald

8

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3 December 2017

S Chaing

9

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3 December 2017

A Boney

10

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3 December 2017

E Moore

11

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3 December 2017

D M Frazier

12

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3 December 2017

1 January 2003

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Journal of Inherited Metabolic Disease

3 December 2017

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3 December 2017

26

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3 December 2017

25-35

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3 December 2017

1

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https://scigraph.springernature.com/pub.10.1023/a:1024015227863

3 December 2017

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cites work

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

1 reference

12 December 2020

Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

12 December 2020

Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia

1 reference

12 December 2020

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency

1 reference

12 December 2020

Benign clinical presentation of 3-methylcrotonylglycinuria

1 reference

12 December 2020

Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue

1 reference

12 December 2020

Serving the family from birth to the medical home. Newborn screening: a blueprint for the future - a call for a national agenda on state newborn screening programs

1 reference

12 December 2020

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry

1 reference

12 December 2020

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1 reference

12 December 2020

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

1 reference

12 December 2020

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

12 December 2020

Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.

1 reference

12 December 2020

Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry

1 reference

12 December 2020

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

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12 December 2020

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

1 reference

12 December 2020

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

1 reference

12 December 2020

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.

1 reference

12 December 2020

Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

1 reference

12 December 2020

The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders

1 reference

12 December 2020

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease

1 reference

12 December 2020

3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.

1 reference

12 December 2020

Application of electrospray tandem mass spectrometry to neonatal screening

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1024015227863

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Dimensions Publication ID

3 December 2017

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1 reference