(Q34976078)

5 August 2017

title

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

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5 August 2017

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9

Elin Grundberg

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5 August 2017

author name string

Jordan P Lerner-Ellis

1

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5 August 2017

Natascia Anastasio

2

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5 August 2017

Junhui Liu

3

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5 August 2017

David Coelho

4

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5 August 2017

Terttu Suormala

5

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5 August 2017

Martin Stucki

6

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5 August 2017

Amanda D Loewy

7

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5 August 2017

Scott Gurd

8

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5 August 2017

Chantal F Morel

10

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5 August 2017

David Watkins

11

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5 August 2017

Matthias R Baumgartner

12

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5 August 2017

Tomi Pastinen

13

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5 August 2017

David S Rosenblatt

14

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5 August 2017

Brian Fowler

15

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5 August 2017

publication date

1 July 2009

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5 August 2017

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5 August 2017

volume

30

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5 August 2017

issue

7

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5 August 2017

page(s)

1072-1081

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Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

5 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Gene identification for the cblD defect of vitamin B12 metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Survey of allelic expression using EST mining

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Decyanation of vitamin B12 by a trafficking chaperone

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Nutritional modulation of gene expression and homocysteine utilization by vitamin B12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21001

7 January 2021

Identifiers

DOI

10.1002/HUMU.21001

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5 August 2017

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