(Q34038698)

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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

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Europe PubMed Central

PubMed publication ID

30 July 2017

Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

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inferred from title

9

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Chunli Yu

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Melissa P Wasserstein

5

object named as

Melissa P Wasserstein

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Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

James D Weisfeld-Adams

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Mark A Morrissey

2

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Europe PubMed Central

PubMed publication ID

30 July 2017

Brian M Kirmse

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Bobbie R Salveson

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Peter J McGuire

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Sherlykutty Sunny

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Jessica L Cohen-Pfeffer

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Michele Caggana

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

George A Diaz

11

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

publication date

27 September 2009

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Europe PubMed Central

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30 July 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

99

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

116-123

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Decyanation of vitamin B12 by a trafficking chaperone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Gene identification for the cblD defect of vitamin B12 metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Hyperhomocysteinemia and venous thromboembolism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Long-term outcome in treated combined methylmalonic acidemia and homocystinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Reduction of false negative results in screening of newborns for homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

5 July 2018

Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

29 October 2018

The impact of screening for propionic and methylmalonic acidaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

29 October 2018

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

29 October 2018

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

29 October 2018

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2914534

29 October 2018

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.008

7 January 2021

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.008

7 January 2021

State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.09.008

7 January 2021

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

1 reference

https://pubmed.ncbi.nlm.nih.gov/19836982

12 December 2020

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10.1016/J.YMGME.2009.09.008

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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