Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

[1]  N. Okamoto,et al.  Electrospray Ionization Mass Spectrometry of Apolipoprotein CIII to Evaluate O-glycan Site Occupancy and Sialylation in Congenital Disorders of Glycosylation , 2022, Mass spectrometry.

[2]  N. Okamoto,et al.  Electrospray Ionization Mass Spectrometry of Transferrin: Use of Quadrupole Mass Analyzers for Congenital Disorders of Glycosylation , 2022, Mass spectrometry.

[3]  L. Garavelli,et al.  The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects , 2021, Molecular genetics and metabolism reports.

[4]  K. Stefánsson,et al.  NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum , 2021, Frontiers in Neurology.

[5]  P. Azadi,et al.  Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. , 2020, Haematologica.

[6]  David G. Knowles,et al.  Predicting Splicing from Primary Sequence with Deep Learning , 2019, Cell.

[7]  M. Simpson,et al.  Mutation in GNE is associated with severe congenital thrombocytopenia. , 2018, Blood.

[8]  M. Simpson,et al.  1 MUTATION IN GNE IS ASSOCIATED WITH A SEVERE FORM OF CONGENITAL THROMBOCYTOPENIA , 2018 .

[9]  Dian Donnai,et al.  NANS-mediated synthesis of sialic acid is required for brain and skeletal development , 2016, Nature Genetics.

[10]  Anders Isaksson,et al.  Rawcopy: Improved copy number analysis with Affymetrix arrays , 2015, Scientific Reports.

[11]  A. Wang,et al.  Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma. , 2015, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[12]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[13]  K. Nakayama,et al.  GNE myopathy associated with congenital thrombocytopenia: A report of two siblings , 2014, Neuromuscular Disorders.

[14]  Rita Gerardy-Schahn,et al.  Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration. , 2014, Physiological reviews.

[15]  Kevin B. Vincent,et al.  A structural and functional model for human bone sialoprotein. , 2013, Journal of molecular graphics & modelling.

[16]  T. Ogata,et al.  Maternal age effect on the development of Prader–Willi syndrome resulting from upd(15)mat through meiosis 1 errors , 2011, Journal of Human Genetics.

[17]  B. Wang Sialic acid is an essential nutrient for brain development and cognition. , 2009, Annual review of nutrition.

[18]  A. Varki Sialic acids in human health and disease. , 2008, Trends in molecular medicine.

[19]  L. Maquat,et al.  Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. , 2006, Trends in molecular medicine.

[20]  K. Knobeloch,et al.  Sialylation is essential for early development in mice , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[21]  M. Cifuentes,et al.  Ependymal Denudation, Aqueductal Obliteration and Hydrocephalus after a Single Injection of Neuraminidase into the Lateral Ventricle of Adult Rats , 1996, Journal of neuropathology and experimental neurology.

[22]  M. G. Lötter,et al.  Influence of platelet membrane sialic acid and platelet-associated IgG on ageing and sequestration of blood platelets in baboons. , 1993, Thrombosis and haemostasis.

[23]  J. Carey,et al.  Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension. , 1991, American journal of medical genetics.

[24]  P. Roughley,et al.  Comparison of proteoglycans extracted from high and low weight-bearing human articular cartilage, with particular reference to sialic acid content. , 1981, The Journal of biological chemistry.