Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.
Koloutsou ME et al.
Hormones (athens, Greece), 2025
Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.
Milosevic MD et al.
Molecular Diagnosis & Therapy, 2025
Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
Akyüz A et al.
European Journal of Pediatrics, 2025
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia.
Gehlhaar A et al.
Human Immunology, 2025
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.
Demirtas Guner D et al.
Children (basel, Switzerland), 2025
Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Kasmi Z et al.
Immunologic Research, 2025
Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
Kasmi Z et al.
Bmc Medical Genomics, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin.
Kaczor M et al.
Blood Advances, 2024
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Shao YX et al.
Orphanet Journal of Rare Diseases, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Lee CL et al.
Frontiers in Genetics, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z et al.
The Journal of International Medical Research, 2023
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors.
Murko S et al.
Molecular Genetics and Metabolism Reports, 2023
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 2023
Immune dysregulation in Glycogen Storage Disease 1b - a CyTOF approach.
Gehlhaar A et al.
Research Square, 2023
Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.
Moundir A et al.
Journal of Clinical Immunology, 2023
Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report.
Calia M et al.
Therapeutic Advances in Gastroenterology, 2023
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
Tallis E et al.
Jimd Reports, 2022
Repurposing of Empagliflozin as a Possible Treatment for Neutropenia and Inflammatory Bowel Disease in Glycogen Storage Disease Type Ib: A Case Report.
Makrilakis K et al.
Cureus, 2022
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?
Kaczor M et al.
Jimd Reports, 2022
The natural history of glycogen storage disease type Ib in England: A multisite survey.
Halligan R et al.
Jimd Reports, 2021
Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.
Du C et al.
Bmc Medical Genomics, 2021
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH et al.
Frontiers in Endocrinology, 2021
Novel variants in Turkish patients with glycogen storage disease.
Çakar NE et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.
Sarajlija A et al.
European Journal of Medical Genetics, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Eghbali M et al.
Orphanet Journal of Rare Diseases, 2020
Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.
Ying S et al.
Frontiers in Pediatrics, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY et al.
Journal of Inherited Metabolic Disease, 2018
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A et al.
Clinical Genetics, 2018
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
Choi R et al.
Annals of Laboratory Medicine, 2017
[History case of multiple hepatic adenomas in adolescent with severe course of glycogen storage disease type lb].
Surkov AN et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2014
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Qiu ZQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Neutropenia in type Ib glycogen storage disease.
Chou JY et al.
Current Opinion in Hematology, 2010
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.
Chen SY et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008