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

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

Journal of inherited metabolic disease - 1 Feb 2006

Sansaricq C, Pardo S, Balwani M, Grace M, Raymond K

Abstract excerpt

A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Child, Preschool
Share to Dihydrolipoamide Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Metabolism, Inborn Errors

Share to North America

Source

Identifiers

PMID: 16601893
DOI: 10.1007/s10545-006-0175-5

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

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.PMID 16601893Read ↗

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.Semantic proximity Read ↗

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.Semantic proximity Read ↗

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.Semantic proximity Read ↗

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.Semantic proximity Read ↗

ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish DescentSemantic proximity Read ↗

Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanismSemantic proximity Read ↗

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.Semantic proximity Read ↗

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.Semantic proximity Read ↗

A Single-Base Deletion in the 3'-Coding Region of Glycogen-Debranching Enzyme Is Prevalent in Glycogen Storage Disease Type IIIA in a Population of North African Jewish PatientsSemantic proximity Read ↗

Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.Semantic proximity Read ↗

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.Semantic proximity Read ↗

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read ↗

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