Science & Education
Scientific articles
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Novel GNB1 Missense Mutation in a Patient with Generalized Dystonia, Hypotonia, and Intellectual Disability
Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients…
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Identification of a Novel Deletion in the MMAA Gene in Two Iranian Siblings with Vitamin B12-Responsive Methylmalonic Acidemia
Adenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA type, is an inborn…
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Robustness of Comprehensive DNA- and RNA-Based Assays at Diagnosis of Acute Myeloid Leukemia Using Blood and Bone Marrow Stored on Filter Cards
"Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). In our study, we performed a comparison of state-of-the-art…
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Multicenter Female Fabry Study (MFFS)
The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 and 12/2014, data from…
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Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females. The intracellular storage affects different organ systems, causing severe alteration. The aim of the…
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Niemann–Pick Type C in Early-Onset Ataxia
Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents a…
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Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C
Niemann–Pick disease type C (MIM 607625; NP-C) is an autosomal recessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for…
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Cutaneous Freckling: Possible new Clinical Marker
Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of…
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Characterization of the Novel Indolylmaleimides'
Protein kinase inhibitors are widely used in chemotherapeutic cancer regimens. Maleimide derivatives such as SB-216763 act as GSK-3 inhibitor targeting cell proliferation, cell death and cell cycle progression.