Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Yeshareem L et al.
European Journal of Haematology, 2024
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
Boulanger C et al.
Journal of Inherited Metabolic Disease, 2022
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022
Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
Lebel A et al.
Pediatric Blood & Cancer, 2015
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
Ozgül RK et al.
Journal of Clinical Immunology, 2014
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