Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

The Journal of pediatrics - 1 Apr 2009

Miousse Isabelle R, Watkins David, Coelho David, Rupar Tony, Crombez Eric A, Vilain Eric, Bernstein Jonathan A, Cowan Tina, Lee-Messer Christopher, Enns Gregory M, Fowler Brian, Rosenblatt David S

Abstract excerpt

OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria. STUDY DESIGN: Patient clinical records were reviewed. Biochemical and somatic cell genetic studies were performed on cultured fibroblasts....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homocystinuria

Share to Membrane Transport Proteins

Share to Methylmalonic Acid

Share to Mitochondrial Membrane Transport Proteins

Share to Mitochondrial Proteins

Share to Vitamin B 12 Deficiency

Source

Identifiers

PMID: 19058814
DOI: 10.1016/j.jpeds.2008.10.043

Genes

MMADHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.PMID 19058814Read ↗

Characterization of functional domains of the cblD (MMADHC) gene product.Semantic proximity Read ↗

Gene Identification for the cblD Defect of Vitamin B<sub>12</sub>MetabolismSemantic proximity Read ↗

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.Semantic proximity Read ↗

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.Semantic proximity Read ↗

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Semantic proximity Read ↗

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C diseaseSemantic proximity Read ↗

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.Semantic proximity Read ↗

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Semantic proximity Read ↗

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.Semantic proximity Read ↗

Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.Semantic proximity Read ↗

The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Semantic proximity Read ↗

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.