| 000 | 02895nam a2200421 i 4500 | ||
|---|---|---|---|
| 003 | OSt | ||
| 005 | 20250223033354.0 | ||
| 008 | 241224s2023 |||a|||| m||| 000 0 eng d | ||
| 040 |
_aEG-GICUC _beng _cEG-GICUC _dEG-GICUC _erda |
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| 041 | 0 |
_aeng _beng _bara |
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| 049 | _aDeposit | ||
| 082 | 0 | 4 | _a618.24 |
| 092 |
_a618.24 _221 |
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| 097 | _aM.Sc | ||
| 099 | _aCai01.24.03.Ph.D.2023.He.P | ||
| 100 | 0 |
_aHeba Ezzat Abdullah, _epreparation. |
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| 245 | 1 | 0 |
_aPrenatal diagnosis of sialic acid storage disease in non-immune hydrops fetalis by matrix assisted laser desorption/ionization time of flight mass spectrometry : _cby 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. _bRemainder of title / |
| 246 | 1 | 5 | _a/ تشخيص ما قبل الولادة لمرض تخزين حمض السياليك في حالات الاستسقاء الجنيني غير المناعي بمساعدة امتزاز الليزر عن طريق التأين بتوقيت مطياف الكتلة |
| 264 | 0 | _c2023. | |
| 300 |
_a96 pages : _billustrations ; _c25 cm. + _eCD. |
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| 336 |
_atext _2rda content |
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| 337 |
_aUnmediated _2rdamedia |
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| 338 |
_avolume _2rdacarrier |
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| 502 | _aThesis (Ph.D)-Cairo University, 2023. | ||
| 504 | _aBibliography: pages 72-93. | ||
| 520 | _aSASD 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. | ||
| 520 | _aتم 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 ٪ | ||
| 530 | _aIssues also as CD. | ||
| 546 | _aText in English and abstract in Arabic & English. | ||
| 650 | 7 |
_aBorn birth care _2qrmak |
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| 653 | 0 |
_aPrenatal Diagnosis _aSialic Acid _aNon-Immune Hydrops Fetalis |
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| 700 | 0 |
_aHesham Abd El Hakam _ethesis advisor. |
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| 700 | 0 |
_aSherif Ali Hassan _ethesis advisor. |
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| 900 |
_b01-01-2023 _cHesham Abd El Hakam _cSherif Ali Hassan _UCairo University _FFaculty of Dentistry _DDepartment of Oral and Maxillofacial Surgery |
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| 905 | _aShimaa | ||
| 942 |
_2ddc _n0 _cTH _e21 |
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| 999 | _c169714 | ||