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

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

Journal of inherited metabolic disease - 1 Oct 2007

Heil Sandra G, Hogeveen Marije, Kluijtmans Leo A J, van Dijken P J, van de Berg Gerard B, Blom Henk J, Morava Eva

Abstract excerpt

Cobalamin is an essential cofactor for two mammalian enzymes: methionine synthase and methylmalonyl-CoA mutase. Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria. Recently, the gene responsible for the CblC type, MMACHC, was identified, which enables molecular diagnostics. In this study, we describe two siblings, a 16-year-old girl and her 11-year-old brother, of...

Read the complete abstract on PubMed

Topics

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

Share to Carnitine
Share to Homocystinuria

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Metabolism, Inborn Errors

Share to Methylmalonic Acid

Share to Vitamin B 12

Share to Vitamin B 6

Share to Vitamins

Source

Identifiers

PMID: 17768669
DOI: 10.1007/s10545-007-0546-6

Genes

MMACHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).PMID 17768669Read ↗

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

A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.Semantic proximity Read ↗

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialistsSemantic proximity Read ↗

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

Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.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 ↗

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysisSemantic proximity Read ↗

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.Semantic proximity Read ↗

Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.Semantic proximity Read ↗

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.Semantic proximity Read ↗

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.Semantic proximity Read ↗

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