Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations (Q34528675)

2 August 2017

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

1 reference

2 August 2017

1 reference

Chantal F Morel

1

1 reference

PubMed ID

16714133

2 August 2017

Jordan P Lerner-Ellis

series ordinal

2

1 reference

PubMed ID

16714133

2 August 2017

David S Rosenblatt

series ordinal

3

1 reference

2 August 2017

22 May 2006

1 reference

Molecular Genetics and Metabolism

2 August 2017

1 reference

2 August 2017

88

1 reference

2 August 2017

315-321

1 reference

2 August 2017

4

1 reference

A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria

2 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Neuropsychiatric Disturbances in Presumed Late-Onset Cobalamin C Disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Cobalamin C defect associated with hemolytic-uremic syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

A congenital anomaly of vitamin B12 metabolism: a study of three cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

The association of protein-losing enteropathy with cobalamin C defect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Long-term outcome in treated combined methylmalonic acidemia and homocystinemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Consed: a graphical tool for sequence finishing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Consequences of complexity within biological networks: robustness and health, or vulnerability and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Modifier genes convert "simple" Mendelian disorders to complex traits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Monogenic traits are not simple: lessons from phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.04.001

10.1016/J.YMGME.2006.04.001

7 January 2021

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

16714133