Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

Steinrücke et al. Neurol Genet. (2016) Sep 13

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 with neurodevelopmental disability and a wide range of ...

Guidelines for diagnostic next-generation sequencing

Matthijs et al. EJHG (2016) 24, 2-5

The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients’ representatives, and other stakeholders in the field of human genetics. The statements that were written during the  elaboration ...

Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease

Lenders et al. Orphanet J Rare Dis. 2016 Jun 29

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 the most recent visit of 261 adult female FD patients ...

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

Keyfi et al. Cellular & Molecular Biology Letters (2016) 21:4

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 error of vitamin B12 metabolism that occurs due to mutations in ...

Robustness of comprehensive DNA- and RNA-based assays at diagnosis of acute myeloid leukemia using blood and bone marrow stored on filter cards

Robustness of comprehensive DNA- and RNA-based assays at diagnosis of acute myeloid leukemia using blood and bone marrow stored on filter cards;
T Haferlach, S Weber, R Konietschke, N Nadarajah, A Stengel, W Kern, C Haferlach and M Meggendorfer; Leukemia
advance online publication, 10 June 2016; ...

"Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). This is driven by improvements of applicable techniques and the detection of many new genes to be involved. The need for a ...

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 autosomalrecessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for more than 95% of cases) or NPC2[Park et al., 2003].

The proband was an only child, born at term to a non-consanguineous couple of Asian origin. Her birth weight (BW) was 3.5 kg, normal. She was evaluated at 3 months of age for failure to thrive, cough, and loose stools. She as treated symptomatically for cough …

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 [1–4]. The intracellular storage affects different organ systems, causing severe alteration…

Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac ...

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