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Quoted phrase not found in phrase index: "Severe Canavan disease"
Page 1
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% …
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM, Michals-Matalon K. Matalon RM, et al. Front Biosci. 2000 Mar 1;5:D307-11. doi: 10.2741/matalon. Front Biosci. 2000. PMID: 10704428 Review.
Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white matter of the brain. ...Hypotonia, head lag and macrocephaly are characteristic of Canavan disease and become apparent after 5- …
Canavan disease is a severe progressive leukodystrophy characterized by swelling and spongy degeneration of the white m …
Carrier testing for autosomal-recessive disorders.
Vallance H, Ford J. Vallance H, et al. Crit Rev Clin Lab Sci. 2003 Aug;40(4):473-97. doi: 10.1080/10408360390247832. Crit Rev Clin Lab Sci. 2003. PMID: 14582604 Review.
The Ashkenazi Jewish population is at increased risk for several recessively inherited disorders (Tay-Sachs disease, Cystic fibrosis, Canavan disease, Gaucher disease, Familial Dysautonomia, Niemann-Pick disease, Fanconi anemia, and Bloom syndro …
The Ashkenazi Jewish population is at increased risk for several recessively inherited disorders (Tay-Sachs disease, Cystic fibrosis, …
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS. Bley A, et al. Orphanet J Rare Dis. 2021 May 19;16(1):227. doi: 10.1186/s13023-020-01659-3. Orphanet J Rare Dis. 2021. PMID: 34011350 Free PMC article.
BACKGROUND: Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. ...Concordance of phenotypes between siblings but not patients with identical ASPA mutations suggest the influence of yet unknown modifiers. A CD severity …
BACKGROUND: Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. ...Concordance of …
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.
Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Kay Koenig M, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D. Striano P, et al. Epilepsia. 2022 Jul;63(7):1748-1760. doi: 10.1111/epi.17263. Epub 2022 May 21. Epilepsia. 2022. PMID: 35441706 Free PMC article. Clinical Trial.
Common treatment-emergent adverse events included diarrhea, vomiting, abdominal pain, and nausea, mostly mild or moderate in severity. No serious adverse events were considered to be treatment related. ...
Common treatment-emergent adverse events included diarrhea, vomiting, abdominal pain, and nausea, mostly mild or moderate in severity …
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 …
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 …
Renal Impairment and Risk of Acute Stroke: The INTERSTROKE Study.
Smyth A, Judge C, Wang X, Pare G, Rangarajan S, Canavan M, Chin SL, Al-Hussain F, Yusufali AM, Elsayed A, Damasceno A, Avezum A, Czlonkowska A, Rosengren A, Dans AL, Oguz A, Mondo C, Weimar C, Ryglewicz D, Xavier D, Lanas F, Malaga G, Hankey GJ, Iversen HK, Zhang H, Yusoff K, Pogosova N, Lopez-Jamarillo P, Langhorne P, Diaz R, Oveisgharan S, Yusuf S, O'Donnell M; INTERSTROKE investigators. Smyth A, et al. Neuroepidemiology. 2021;55(3):206-215. doi: 10.1159/000515239. Epub 2021 May 5. Neuroepidemiology. 2021. PMID: 33951632
CONCLUSION: Renal impairment is an important risk factor for stroke, particularly in younger patients, and is associated with more severe stroke and worse outcomes....
CONCLUSION: Renal impairment is an important risk factor for stroke, particularly in younger patients, and is associated with more 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 …
Severe functional limitation due to pain & emotional distress and subsequent receipt of prescription medications among older adults with cancer.
Presley CJ, Canavan M, Wang SY, Feder SL, Kapo J, Saphire ML, Sheinfeld E, Kent EE, Davidoff AJ. Presley CJ, et al. J Geriatr Oncol. 2020 Jul;11(6):960-968. doi: 10.1016/j.jgo.2020.02.006. Epub 2020 Mar 10. J Geriatr Oncol. 2020. PMID: 32169548 Free PMC article.
RESULTS: Among 9105 older adults with cancer, aged 66-102 years (y), 68.6% reported moderate to severe functional limitation due to pain, and 48.3% reported moderate to severe functional limitation due to emotional distress. Nearly 10% reported severe functio …
RESULTS: Among 9105 older adults with cancer, aged 66-102 years (y), 68.6% reported moderate to severe functional limitation due to p …
28 results