Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

doi:10.1016/j.gim.2024.101165

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

Community

Back to search

Article

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2024

Mikami-Saito Yasuko, Wada Yoichi, Arai-Ichinoi Natsuko, Nakajima Yoko, Suzuki-Ajihara Sayaka, Murayama Kei, Tanaka Toju, Numakura Chikahiko, Hamazaki Takashi, Igarashi Noboru, Esaki Hiroyuki, Kagawa Reiko, Kono Tomotaka, Sawada Takaaki, Sawada Tomo, Nyuzuki Hiromi, Hirai Hiroki, Fumoto Seiko, Matsuda Junko, Matsunaga Ayako, Maruyama Shinsuke, Yamaguchi Kenichiro, Yoshino Miwa, Totsune Eriko, Kikuchi Atsuo, Ohura Toshihiro, Kure Shigeo

Abstract excerpt

PURPOSE: Galactose mutarotase (GALM) deficiency was first reported in 2019 as the fourth type of galactosemia. This study aimed to investigate the clinical and genotypic spectra of GALM deficiency. METHODS: This was a questionnaire-based retrospective survey conducted in Japan between February 2022 and March 2023. RESULTS: We identified 40 patients with GALM deficiency in Japan (estimated prevalence: 1:181,835)....

Read the complete abstract on PubMed

Topics

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

Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Galactose

Share to Galactosemias

Share to Infant

Share to Japan

Share to Surveys and Questionnaires

Source

Open in PubMed

Identifiers

PMID: 38762772
DOI: 10.1016/j.gim.2024.101165

Genes

GALM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.PMID 38762772Read ↗

Galactose epimerase deficiency: lessons from the GalNet registry.Semantic proximity Read ↗

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.Semantic proximity Read ↗

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Semantic proximity Read ↗

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and TreatmentSemantic proximity Read ↗

[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases].Semantic proximity Read ↗

Neonatal Classic Galactosemia in North India: A 7-Year Cohort Study of Presentation, Genetics, and OutcomesSemantic proximity Read ↗

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

Comprehensive analysis of non-synonymous missense SNPs of human galactose mutarotase (GALM) gene: an integrated computational approach.Semantic proximity Read ↗

The Genetic Basis of Galactosemia in Iranian Patients: Identification of Twenty Novel Mutations in GALT, GALK1 and GALE GeneSemantic proximity Read ↗

[Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene].Semantic proximity Read ↗

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