Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Filters applied: . Clear all
Page 1
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti S, Allcock RJN, Yaplito-Lee J, Adams L, Ellaway C, Jones KJ, Selvanathan A, Fletcher J, Pitt J, van Kuilenburg ABP, Delatycki MB, Laing NG, Kirk EP. Righetti S, et al. Among authors: delatycki mb. Mol Genet Metab. 2022 Sep-Oct;137(1-2):62-67. doi: 10.1016/j.ymgme.2022.07.011. Epub 2022 Jul 25. Mol Genet Metab. 2022. PMID: 35926322
METHODS: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously published case and reporting of additional cases. ...
METHODS: Literature review, calculation of carrier frequencies from population databases, long-term follow-up of a previously publish …
Young People Living at Risk of Huntington's Disease: The Lived Experience.
Lewit-Mendes MF, Lowe GC, Lewis S, Corben LA, Delatycki MB. Lewit-Mendes MF, et al. Among authors: delatycki mb. J Huntingtons Dis. 2018;7(4):391-402. doi: 10.3233/JHD-180308. J Huntingtons Dis. 2018. PMID: 30372686
Without increased support and services, the effects of being a young caregiver and living at risk are likely to have long term impacts on the well-being of these young people....
Without increased support and services, the effects of being a young caregiver and living at risk are likely to have long term impact …
Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.
Milne SC, Corben LA, Georgiou-Karistianis N, Delatycki MB, Yiu EM. Milne SC, et al. Among authors: delatycki mb. Neurorehabil Neural Repair. 2017 Jul;31(7):609-622. doi: 10.1177/1545968317712469. Epub 2017 Jun 9. Neurorehabil Neural Repair. 2017. PMID: 28595509 Review.
OBJECTIVE: This systematic review evaluated rehabilitation interventions for individuals with genetic degenerative ataxia. In addition, long-term outcomes from rehabilitation and optimal duration and intensity of rehabilitation were examined. ...Fifteen of the 17 studies d …
OBJECTIVE: This systematic review evaluated rehabilitation interventions for individuals with genetic degenerative ataxia. In addition, long …
Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron).
Ong SY, Dolling L, Dixon JL, Nicoll AJ, Gurrin LC, Wolthuizen M, Wood EM, Anderson GJ, Ramm GA, Allen KJ, Olynyk JK, Crawford D, Kava J, Ramm LE, Gow P, Durrant S, Powell LW, Delatycki MB. Ong SY, et al. Among authors: delatycki mb. BMJ Open. 2015 Aug 12;5(8):e008938. doi: 10.1136/bmjopen-2015-008938. BMJ Open. 2015. PMID: 26270952 Free PMC article. Clinical Trial.
We present here methods for a study that aims to evaluate whether non-specific symptoms and hepatic fibrosis markers improve with short-term normalisation of SF in p.C282Y homozygotes with moderate elevation of SF. ...
We present here methods for a study that aims to evaluate whether non-specific symptoms and hepatic fibrosis markers improve with short-t …
High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up.
Curd H, Lewis S, Macciocca I, Sahhar M, Petrou V, Bankier A, Lieberman S, Levy-Lahad E, Delatycki MB. Curd H, et al. Among authors: delatycki mb. J Community Genet. 2014 Apr;5(2):139-46. doi: 10.1007/s12687-013-0163-z. Epub 2013 Jul 27. J Community Genet. 2014. PMID: 23893770 Free PMC article.
The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively desig …
The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate th …
Understanding the costs of care for cystic fibrosis: an analysis by age and health state.
van Gool K, Norman R, Delatycki MB, Hall J, Massie J. van Gool K, et al. Among authors: delatycki mb. Value Health. 2013 Mar-Apr;16(2):345-55. doi: 10.1016/j.jval.2012.12.003. Value Health. 2013. PMID: 23538187 Free article.
Our results can be used as an input to future economic evaluations by providing analysts with a better understanding of the long-term cost impact when new treatments are developed....
Our results can be used as an input to future economic evaluations by providing analysts with a better understanding of the long-term …
"It was the missing piece": adolescent experiences of predictive genetic testing for adult-onset conditions.
Mand C, Gillam L, Duncan RE, Delatycki MB. Mand C, et al. Among authors: delatycki mb. Genet Med. 2013 Aug;15(8):643-9. doi: 10.1038/gim.2013.15. Epub 2013 Feb 28. Genet Med. 2013. PMID: 23448724 Free article.
CONCLUSION: The results highlight that young people from families affected by genetic conditions might possess task-specific competence relating to decision making about predictive testing. Further research and longer-term follow-up is required to study the outcomes of tes …
CONCLUSION: The results highlight that young people from families affected by genetic conditions might possess task-specific competence rela …
"He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.
Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Cousens NE, et al. Among authors: delatycki mb. J Community Genet. 2013 Apr;4(2):223-32. doi: 10.1007/s12687-012-0136-7. Epub 2013 Jan 13. J Community Genet. 2013. PMID: 23315178 Free PMC article.
Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested for thalassaemia at least before a specific thalassaemia diagnostic test is performed; (2) current understanding by known carriers of thalass …
Based on the results of this study, we make the following recommendations: (1) individuals should be made aware that they are being tested f …
Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia.
Milne SC, Campagna EJ, Corben LA, Delatycki MB, Teo K, Churchyard AJ, Haines TP. Milne SC, et al. Among authors: delatycki mb. Arch Phys Med Rehabil. 2012 Oct;93(10):1860-3. doi: 10.1016/j.apmr.2012.03.026. Epub 2012 Apr 3. Arch Phys Med Rehabil. 2012. PMID: 22484089
The benefits from this intervention continued during the period immediately after inpatient rehabilitation, indicating that these gains are more than just short-term achievements. Further exploration of intensity, type, and length of rehabilitation is required to ensure th …
The benefits from this intervention continued during the period immediately after inpatient rehabilitation, indicating that these gains are …
14 results