Pages that link to "Q742500"
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The following pages link to methylmalonic acidemia (Q742500):
Displaying 50 items.
- methylmalonyl-CoA mutase deficiency (Q6824028) (← links)
- methylmalonic aciduria and homocystinuria type cblC (Q18553420) (← links)
- methylmalonic aciduria and homocystinuria type cblD (Q18553421) (← links)
- methylmalonic aciduria and homocystinuria type cblF (Q18553422) (← links)
- methylmalonic aciduria and homocystinuria type cblE (Q18553435) (← links)
- methylmalonic aciduria and homocystinuria type cblG (Q18553436) (← links)
- Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements (Q24539565) (← links)
- Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia (Q24672960) (← links)
- Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning (Q24676939) (← links)
- (Q25403161) (redirect page) (← links)
- Isolated Methylmalonic Acidemia (Q26824306) (← links)
- Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review (Q26849661) (← links)
- methylmalonic acidemia due to transcobalamin receptor defect (Q28065544) (← links)
- methylmalonic acidemia cblA type (Q28065545) (← links)
- methylmalonic acidemia cblB type (Q28065546) (← links)
- N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients (Q28214820) (← links)
- Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA) (Q28276617) (← links)
- Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia (Q28295609) (← links)
- Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature (Q28295972) (← links)
- Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations (Q28300962) (← links)
- Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: Use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia (Q28342188) (← links)
- Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations (Q29039388) (← links)
- A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia (Q30407143) (← links)
- Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction (Q30496514) (← links)
- Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. (Q30651267) (← links)
- Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia (Q30981461) (← links)
- Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature (Q31163270) (← links)
- Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle (Q33302709) (← links)
- Severe neutropenia in an infant with methylmalonic acidemia (Q33349293) (← links)
- Methylmalonic acidemia and hyperglycemia: An unusual association (Q33396436) (← links)
- Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B12 therapy (Q33454695) (← links)
- Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy (Q33730476) (← links)
- Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia (Q33792426) (← links)
- Renal growth in isolated methylmalonic acidemia (Q34108255) (← links)
- Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus (Q34236214) (← links)
- Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (Q34283724) (← links)
- Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation (Q34340750) (← links)
- Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations (Q34404228) (← links)
- Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants (Q34405099) (← links)
- Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. (Q34448257) (← links)
- Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC) (Q34456976) (← links)
- Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants (Q35198425) (← links)
- Methylmalonic acidemia and diabetic ketoacidosis: An unusual association (Q35603763) (← links)
- Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. (Q35959129) (← links)
- Neurocognitive phenotype of isolated methylmalonic acidemia (Q35996771) (← links)
- Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery (Q36055431) (← links)
- Methylmalonic acidemia (MMA). (Q36164967) (← links)
- Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. (Q36485435) (← links)
- Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA (Q36512118) (← links)
- A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency (Q36578178) (← links)