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Download Torrent from Library Download the. nfpa70epdftorrentdownload NFPA 70E.Noonan Syndrome: a Case Report.
Noonan syndrome is characterized by facial dysmorphism, preauricular pits, congenital heart disease, webbing of neck and/or thumbs and genitourinary abnormalities. Prognosis depends on the severity of the symptoms. Genetic test and a systematic evaluation is recommended for all patients with Noonan syndrome. This paper describes a novel mutation in PTPN11 gene and a rare case of Noonan syndrome. The patient was an asymptomatic six year old girl with a history of congenital heart disease, and was referred to our clinic because of multiple macroglossia. Posteroanterior and lateral cephalometric radiographs were performed for a detailed cephalometric analysis and a virtual photographic superimposition. The mother of the patient was evaluated for atypical features for Noonan syndrome but clinical findings and family history were not compatible with Noonan syndrome. After cephalometric analysis it was determined that the patient was a case of Noonan syndrome. Molecular test of PTPN11 gene demonstrated a novel mutation in exon 20 (c.2061+2T>C, p.Arg621Leu). The mutation was identified for the first time in our region. In conclusion we think that the birth prevalence of Noonan syndrome may be higher than previously reported. Awareness of this syndrome among clinicians is critical for early diagnosis and better management and prevention of the complications.Glucoamylase
In enzymology, a glucoamylase () is an enzyme that catalyzes the chemical reaction
alpha-D-glucosyl-(1->4)-D-glucose + H2O 4-alpha-D-glucosyl-D-glucose + D-glucose
Thus, the two substrates of this enzyme are alpha-D-glucosyl-(1->4)-D-glucose and H2O, whereas its two products are 4-alpha-D-glucosyl-D-glucose and D-glucose.
This enzyme belongs to the family of hydrolases, specifically those glycosidases that hydrolyse O- and S-glycosyl compounds to the corresponding aglycon
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