TY  - BOOK
AU  - Heba Ezzat Abdullah,
AU  - Hesham Abd El Hakam
AU  - Sherif Ali Hassan 
TI  - Prenatal diagnosis of sialic acid storage disease in non-immune hydrops fetalis by matrix assisted laser desorption/ionization time of flight mass spectrometry: Remainder of title / 
U1  - 618.24 
PY  - 2023///
KW  - Born birth care
KW  - qrmak
KW  - Prenatal Diagnosis
KW  - Sialic Acid
KW  - Non-Immune Hydrops Fetalis
N1  - Thesis (Ph.D)-Cairo University, 2023; Bibliography: pages 72-93; Issues also as CD
N2  - 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 ٪
ER  -