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

31 results

Filters applied: . Clear all
Page 1
Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series.
Selvanathan A, Kinsella J, Moore F, Wynn R, Jones S, Shaw PJ, Wilcken B, Bhattacharya K. Selvanathan A, et al. Among authors: wilcken b. JIMD Rep. 2021 May 5;61(1):3-11. doi: 10.1002/jmd2.12222. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485011 Free PMC article.
We present a case series of four children with AGU who underwent HSCT at different ages (9 years, 5 years, 5 months, and 7 months of age), with long-term follow-up post-transplant (over 10 years). These cases demonstrate similar neurodevelopmental heterogeneity based on fo …
We present a case series of four children with AGU who underwent HSCT at different ages (9 years, 5 years, 5 months, and 7 months of age), w …
Association of elevated neonatal thyroid-stimulating hormone levels with school performance and stimulant prescription for attention deficit hyperactivity disorder in childhood.
Lain SJ, Wiley V, Jack M, Martin AJ, Wilcken B, Nassar N. Lain SJ, et al. Among authors: wilcken b. Eur J Pediatr. 2021 Apr;180(4):1073-1080. doi: 10.1007/s00431-020-03828-9. Epub 2020 Oct 14. Eur J Pediatr. 2021. PMID: 33057816
This study aimed to examine whether mildly elevated neonatal thyroid-stimulating hormone (TSH) levels are associated with poor school performance or stimulant prescription for attention deficit hyperactivity disorder (ADHD). This record-linkage study included 232,790 term- …
This study aimed to examine whether mildly elevated neonatal thyroid-stimulating hormone (TSH) levels are associated with poor school perfor …
Association between borderline neonatal thyroid-stimulating hormone concentrations and educational and developmental outcomes: a population-based record-linkage study.
Lain SJ, Bentley JP, Wiley V, Roberts CL, Jack M, Wilcken B, Nassar N. Lain SJ, et al. Among authors: wilcken b. Lancet Diabetes Endocrinol. 2016 Sep;4(9):756-765. doi: 10.1016/S2213-8587(16)30122-X. Epub 2016 Jul 22. Lancet Diabetes Endocrinol. 2016. PMID: 27453174
BACKGROUND: Congenital hypothyroidism causes intellectual delay unless identified and effectively treated soon after birth. Newborn screening has almost eliminated intellectual disability associated with congenital hypothyroidism. ...This association needs further investig …
BACKGROUND: Congenital hypothyroidism causes intellectual delay unless identified and effectively treated soon after birth. Newborn s …
Using record linkage to investigate perinatal factors and neonatal thyroid-stimulating hormone.
Lain SJ, Roberts CL, Wilcken B, Wiley V, Jack MM, Nassar N. Lain SJ, et al. Among authors: wilcken b. J Paediatr Child Health. 2015 Jun;51(6):620-5. doi: 10.1111/jpc.12783. Epub 2014 Nov 26. J Paediatr Child Health. 2015. PMID: 25425135
The correlation and association between maternal and infant TSH levels were assessed using Pearson's correlation coefficient and multivariable linear regression, respectively. RESULTS: Of maternal and birth records, 99.3% linked with an NBS record. Mother's country of b …
The correlation and association between maternal and infant TSH levels were assessed using Pearson's correlation coefficient and multivariab …
The mild form of menkes disease: a 34 year progress report on the original case.
Tchan MC, Wilcken B, Christodoulou J. Tchan MC, et al. Among authors: wilcken b. JIMD Rep. 2013;9:81-84. doi: 10.1007/8904_2012_183. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430551 Free PMC article.
In contrast to patients with the occipital horn syndrome, there have been no connective tissue complications of his mild Menkes disease. He has been under long-term copper therapy for more than 30 years and he continues to enjoy a good quality of life....
In contrast to patients with the occipital horn syndrome, there have been no connective tissue complications of his mild Menkes disease. He …
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.
Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. Wortmann SB, et al. Among authors: wilcken b. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. Neurology. 2010. PMID: 20855850
The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more about the natural course of this presumably slowly progressive disease. ...
The variable features found in affected children may be coincidental. Long-term follow-up in children is essential to learn more abou …
Expanded newborn screening: reducing harm, assessing benefit.
Wilcken B. Wilcken B. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S205-10. doi: 10.1007/s10545-010-9106-6. Epub 2010 May 4. J Inherit Metab Dis. 2010. PMID: 20440650
One is the finding of many more cases by screening, the extra cases being largely patients who have attenuated phenotypes and may remain asymptomatic for many years, even throughout life. These may or may not require active management in the short term, but do need lifelon …
One is the finding of many more cases by screening, the extra cases being largely patients who have attenuated phenotypes and may remain asy …
Fatty acid oxidation disorders: outcome and long-term prognosis.
Wilcken B. Wilcken B. J Inherit Metab Dis. 2010 Oct;33(5):501-6. doi: 10.1007/s10545-009-9001-1. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049534 Review.
The risk of death after diagnosis is very low at any age, with good management. The long-term outcome is good nowadays. Very-long-chain acyl-CoA dehydrogenase deficiency poses a risk of death in early infancy, but the condition is generally treatable, with a good outcome a …
The risk of death after diagnosis is very low at any age, with good management. The long-term outcome is good nowadays. Very-long-cha …
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Wilcken B, et al. Pediatrics. 2009 Aug;124(2):e241-8. doi: 10.1542/peds.2008-0586. Epub 2009 Jul 20. Pediatrics. 2009. PMID: 19620191
OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clinical outcome at six years of age in Australia. ...
OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We …
31 results