(Q37109281)

18 August 2017

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title

The consequences of extended newborn screening programmes: do we know who needs treatment? (English)

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18 August 2017

B Wilcken

1

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18 August 2017

publication date

22 February 2008

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Journal of Inherited Metabolic Disease

18 August 2017

published in

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18 August 2017

volume

31

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18 August 2017

issue

2

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18 August 2017

page(s)

173-177

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https://scigraph.springernature.com/pub.10.1007/s10545-008-0843-8

18 August 2017

exact match

0 references

cites work

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

Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

12 December 2020

Benign clinical presentation of 3-methylcrotonylglycinuria

1 reference

12 December 2020

Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

1 reference

12 December 2020

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

1 reference

12 December 2020

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome

1 reference

12 December 2020

Newborn screening for inborn errors of metabolism: a systematic review.

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12 December 2020

Newborn screening: toward a uniform screening panel and system

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12 December 2020

Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.

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12 December 2020

Introducing new screens: why are we all doing different things?

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12 December 2020

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

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12 December 2020

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

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

1 reference

12 December 2020

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency

1 reference

12 December 2020

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

12 December 2020

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

1 reference

12 December 2020

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

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

Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult

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

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

12 December 2020

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke

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

The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency

1 reference

12 December 2020

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

1 reference

12 December 2020

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

1 reference

12 December 2020

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

1 reference

12 December 2020

10.1007/S10545-008-0843-8

Identifiers

DOI

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18 August 2017

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