同: congenital disorders of glycosylation

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1. 先天性代謝異常：分類 inborn errors of metabolism classification
2. 新生児における先天性横隔膜ヘルニア congenital diaphragmatic hernia in the neonate

English Journal

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

Yen-Nicolaÿ S1, Boursier C1, Rio M2, Lefeber DJ3, Pilon A4,5, Seta N6, Bruneel A4,6.
Proteomics. Clinical applications.Proteomics Clin Appl.2015 Aug;9(7-8):787-93. doi: 10.1002/prca.201400187. Epub 2015 Mar 24.
PURPOSE: The O-glycan abnormalities accompanying some congenital disorders of glycosylation, namely conserved oligomeric Golgi-congenital disorders of glycosylation (COG-CDGs) and ATP6V0A2-CDGs, are mainly detected using electrophoresis methods applied to circulating apolipoprotein C-III. The object
PMID 25641685

Disseminated Mycobacterium kansasii Disease in Complete DiGeorge Syndrome.

Yin SM1, Ferdman RM, Wang L, Markert ML, Tam JS.
Journal of clinical immunology.J Clin Immunol.2015 Jul;35(5):435-8. doi: 10.1007/s10875-015-0171-3. Epub 2015 Jun 7.
PURPOSE: Complete DiGeorge syndrome (cDGS) describes a subset of patients with DiGeorge syndrome that have thymic aplasia, and thus are at risk for severe opportunistic infections. Patients with cDGS and mycobacterial infection have not previously been described. We present this case to illustrate t
PMID 26048260

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C1, Golas GA2, Davids M2, Huizing M3, Kane MS2, Krasnewich DM4, Malicdan MC5, Adams DR6, Markello TC5, Zein WM7, Gropman AL8, Lodish MB9, Stratakis CA10, Maric I11, Rosenzweig SD12, Baker EH13, Ferreira CR14, Danylchuk NR15, Kahler S15, Garnica AD15, Bradley Schaefer G15, Boerkoel CF16, Gahl WA6, Wolfe LA2.
Molecular genetics and metabolism.Mol Genet Metab.2015 Jun-Jul;115(2-3):128-40. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1.
PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM, #615398)]. PIGT encodes phosphatidylinositol-glycan biosyn
PMID 25943031

Japanese Journal

Histopathologic and Immunohistochemical Characterization of Human Gastric Oxyntic Mucosa with Parietal Cell Protrusions and Investigation into the Association Between Such Mucosal Changes of the Stomach and Use of Proton Pump Inhibitors

Journal of St. Marianna University 6(2), 119-130, 2015
NAID 130005114680

測定学から見た真空計測の基礎 (4)　真空計の長期安定性

Journal of the Vacuum Society of Japan 58(7), 265-271, 2015
NAID 130005091233

An Overview of Low Vacuum System for the Pressure Range from 1 Pa to 133 Pa

Journal of the Vacuum Society of Japan 58(2), 69-71, 2015
NAID 130004952541

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