Prenatal diagnosis in glycogen storage diseases

The Prevalence of Cardiovascular-Kidney-Metabolic Syndrome: A Review of Published Estimates and New Findings from BRFSS Surveys.

Cardiovasc medicine (Basel, Switzerland)·2026

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Molecular genetics and metabolism·2026

A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

American journal of medical genetics. Part A·2026

Estimating the degree of cardiovascular disease risk under-prediction in people with HIV by existing risk models: an updated meta-analysis.

AIDS (London, England)·2026

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.

American journal of human genetics·2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Prenatal diagnosis·2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Prenatal diagnosis·2026

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal diagnosis·2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Prenatal diagnosis·2026

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Prenatal diagnosis·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

bioRxiv : the preprint server for biology·2026

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

bioRxiv : the preprint server for biology·2026

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genomics, proteomics & bioinformatics·2026

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Nature communications·2026

Related Experiment Videos

Prenatal diagnosis in glycogen storage diseases

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The Prevalence of Cardiovascular-Kidney-Metabolic Syndrome: A Review of Published Estimates and New Findings from BRFSS Surveys.

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options.

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

Estimating the degree of cardiovascular disease risk under-prediction in people with HIV by existing risk models: an updated meta-analysis.

Newborn screening for type 1 diabetes using genome-based risk scores in the Early Check program.

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Trio-Exome-Based Mendelian Inheritance Error Analysis Helps Identify Uniparental Disomies and Resolve Discordant NIPT Findings.

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Related Experiment Videos

Prenatal diagnosis in glycogen storage diseases

Related Concept Videos

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