Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
|
28101778 |
2017 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
|
28811685 |
2017 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
|
27591164 |
2017 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
|
26615597 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
|
26449400 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
|
26270765 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
|
27167370 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
|
26615597 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
Biomarker
|
disease |
MGD |
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
|
27519416 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
|
27233228 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
|
27578510 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
|
27233228 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
|
27167370 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
|
26790480 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
|
27233228 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
|
27751223 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
|
27519416 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
|
26270765 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
|
27167370 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
|
26790480 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.
|
27489777 |
2016 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
|
26454439 |
2015 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
|
25959030 |
2015 |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
|
25959030 |
2015 |