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

[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2021

Tian X J, Li X, Fang F, Liu Z M, Wu W J, Liu K, Sun S Z

Abstract excerpt

Objective: To explore the phenotypes and genotypes of molybdenum cofactor deficiency type B (MoCD-B) manifested as Leigh-like syndrome. Methods: The clinical data, laboratory tests, neuroimaging and gene results of one patient diagnosed as MoCD-B at Beijing Children's Hospital and Hebei Children's Hospital in December 2018 were collected. Related literature was searched and reviewed at Wanfang Data Knowledge...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Infant

Share to Infant, Newborn

Share to Phenotype

Source

Identifiers

PMID: 33548958
DOI: 10.3760/cma.j.cn112140-20200911-00866

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review].PMID 33548958Read ↗

Novel Pathogenic Variant in a Mild Case of Type B Molybdenum Cofactor Deficiency: Case Report and Literature ReviewSemantic proximity Read ↗

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].Semantic proximity Read ↗

Molecular basis of Leigh syndrome: a current look.Semantic proximity Read ↗

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.Semantic proximity Read ↗

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.Semantic proximity Read ↗

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.Semantic proximity Read ↗

Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation.Semantic proximity Read ↗

Two Mild Phenotype Molybdenum Cofactor Deficiency Patients with Novel MOCS2 Mutation and Immunological Treatment after COVID-19 InfectionSemantic proximity Read ↗

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.Semantic proximity Read ↗

[Clinical and genetic characteristics of children with Leigh syndrome].Semantic proximity Read ↗

Molybdenum cofactor deficiency: clinical features in a Turkish patient.Semantic proximity Read ↗

Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.Semantic proximity Read ↗

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