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Canavan disease prenatal diagnosis and genetic counseling.
Matalon R, Matalon KM. Matalon R, et al. Obstet Gynecol Clin North Am. 2002 Jun;29(2):297-304. doi: 10.1016/s0889-8545(01)00003-1. Obstet Gynecol Clin North Am. 2002. PMID: 12108830 Review.
Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. ...Only two mutations account for over 98% of all Jewish alleles with Canavan disease. The carrier frequency among healthy Jews is 1:37-58. ...
Canavan disease is a severe leukodystrophy more common among Ashkenazi Jews. ...Only two mutations account for over 98% …
Impact of a national genetic carrier-screening program for reproductive purposes.
Singer A, Sagi-Dain L. Singer A, et al. Acta Obstet Gynecol Scand. 2020 Jun;99(6):802-808. doi: 10.1111/aogs.13858. Epub 2020 Apr 13. Acta Obstet Gynecol Scand. 2020. PMID: 32242916 Free article.
The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and/or mortality, with a carrier frequency of at least 1:60 and/or …
The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe …
Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S. Posern C, et al. Mol Genet Metab. 2024 Jun;142(2):108489. doi: 10.1016/j.ymgme.2024.108489. Epub 2024 May 3. Mol Genet Metab. 2024. PMID: 38718669 Free article.
BACKGROUND: Canavan disease is a devastating neurometabolic disorder caused by accumulation of N acetylaspartate in brain and body fluids due to genetic defects in the aspartoacylase gene (ASPA). ...CONCLUSIONS: We have developed a new LC-MS/MS-based screening test …
BACKGROUND: Canavan disease is a devastating neurometabolic disorder caused by accumulation of N acetylaspartate in brain and …
Mandibular Measurements at the 20-Week Anatomy Ultrasound as a Prenatal Diagnostic Predictor of Pierre Robin Sequence.
Bruce MK, Islam R, Anstadt EE, Kenkre TS, Pfaff MJ, Canavan T, Goldstein JA. Bruce MK, et al. Cleft Palate Craniofac J. 2023 Mar;60(3):352-358. doi: 10.1177/10556656211064771. Epub 2021 Dec 3. Cleft Palate Craniofac J. 2023. PMID: 34860601
This study aimed to evaluate 20-week fetal ultrasounds to determine if specific mandibular measurements could predict PRS diagnosis and disease severity. METHODS: A retrospective case-control study of 48 patients with PRS and gender-matched controls was performed. . …
This study aimed to evaluate 20-week fetal ultrasounds to determine if specific mandibular measurements could predict PRS diagnosis and d …