Prenatal diagnosis of sialic acid storage disease in non-immune hydrops fetalis by matrix assisted laser desorption/ionization time of flight mass spectrometry : by Heba Ezzat Abdullah ; Supervised by Prof. Mohamed Amr Hussein El Noury, Prof. Khaled Ramzy Gaber, Prof. Amr Sobhi Gouda, Prof. Jehan Mohamed Abdelrahman EL Sharnoby. Remainder of title /

By:

Heba Ezzat Abdullah [preparation.]

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Material type: Text

TextLanguage: English Summary language: English, Arabic Producer: 2023Description: 96 pages : illustrations ; 25 cm. + CDContent type:

text

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Unmediated

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volume

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/ تشخيص ما قبل الولادة لمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي بمساعدة امتزاز الليزر عن طريق التأين بتوقيت مطياف الكتلة [Added title page title]

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DDC classification:

618.24

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Issues also as CD.

Dissertation note: Thesis (Ph.D)-Cairo University, 2023. Summary: SASD could lead to NIHF as prognosis, however it is still a non-dominant cause, meanwhile, as increased FSA helps directing DNA sequencing to the Sialin/SLC17A5 gene for bi-allelic mutations which is a reliable diagnosis of SASD, we recommend including quantification of free sialic acid in amniotic fluid using MS/MS as a possible biochemical screen for LSDs causes of NIHF; in conjunction with SLC17A5 gene in NIHF genetic screening panels.Summary: تم تشخيص حالتين مصابتين بمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي. يعد تشخيص أو استبعاد اضطراب التمثيل الغذائي كعامل مسبب لـ حالات الاستسقاء الجنيني غير المناعي أمرًا مهمًا لأن هذه الاضطرابات الجينية المفردة تنطوي على خطر التكرار بنسبة 25 ٪

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Item type	Current library	Home library	Call number	Status	Barcode
Thesis	قاعة الرسائل الجامعية - الدور الاول	المكتبة المركزبة الجديدة - جامعة القاهرة	Cai01.24.03.Ph.D.2023.He.P (Browse shelf(Opens below))	Not for loan	01010110090061000

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Thesis (Ph.D)-Cairo University, 2023.

Bibliography: pages 72-93.

SASD could lead to NIHF as prognosis, however it is still a non-dominant cause, meanwhile, as increased FSA helps directing DNA sequencing to the Sialin/SLC17A5 gene for bi-allelic mutations which is a reliable diagnosis of SASD, we recommend including quantification of free sialic acid in amniotic fluid using MS/MS as a possible biochemical screen for LSDs causes of NIHF; in conjunction with SLC17A5 gene in NIHF genetic screening panels.

تم تشخيص حالتين مصابتين بمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي.
يعد تشخيص أو استبعاد اضطراب التمثيل الغذائي كعامل مسبب لـ حالات الاستسقاء الجنيني غير المناعي أمرًا مهمًا لأن هذه الاضطرابات الجينية المفردة تنطوي على خطر التكرار بنسبة 25 ٪

Issues also as CD.

Text in English and abstract in Arabic & English.

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