Wilcken B - Search Results

1

Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.

Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Grattan-Smith PJ, et al. Among authors: wilcken b. Mov Disord. 2002 Mar;17(2):354-9. doi: 10.1002/mds.10095. Mov Disord. 2002. PMID: 11921123

2

The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements.

Grattan-Smith PJ, Wilcken B, Procopis PG, Wise GA. Grattan-Smith PJ, et al. Among authors: wilcken b. Mov Disord. 1997 Jan;12(1):39-46. doi: 10.1002/mds.870120108. Mov Disord. 1997. PMID: 8990052

3

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Among authors: wilcken b. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.

4

Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.

Sudarsanam A, Singh H, Wilcken B, Stormon M, Arbuckle S, Schmitt B, Clayton P, Earl J, Webster R. Sudarsanam A, et al. Among authors: wilcken b. JIMD Rep. 2014;17:67-70. doi: 10.1007/8904_2014_338. Epub 2014 Sep 26. JIMD Rep. 2014. PMID: 25256445 Free PMC article.

5

Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.

Lipson AH, Earl JW, Wilcken B, Yu JS, O'Halloran M, Cotton RG. Lipson AH, et al. Among authors: wilcken b. J Inherit Metab Dis. 1991;14(1):49-52. doi: 10.1007/BF01804388. J Inherit Metab Dis. 1991. PMID: 1861459

6

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Wopereis S, et al. Among authors: wilcken b. Biochim Biophys Acta. 2006 Jun;1762(6):598-607. doi: 10.1016/j.bbadis.2006.03.009. Biochim Biophys Acta. 2006. PMID: 16769205 Free article.

7

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

Mitchell JJ, Wilcken B, Alexander I, Ellaway C, O'Grady H, Wiley V, Earl J, Christodoulou J. Mitchell JJ, et al. Among authors: wilcken b. Mol Genet Metab. 2005 Dec;86 Suppl 1:S81-5. doi: 10.1016/j.ymgme.2005.06.008. Epub 2005 Aug 8. Mol Genet Metab. 2005. PMID: 16091307

8

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

9

Perimortem laboratory investigation of genetic metabolic disorders.

Christodoulou J, Wilcken B. Christodoulou J, et al. Among authors: wilcken b. Semin Neonatol. 2004 Aug;9(4):275-80. doi: 10.1016/j.siny.2003.10.004. Semin Neonatol. 2004. PMID: 15251144 Review.

10

Clinical approach to inborn errors of metabolism presenting in the newborn period.

Ellaway CJ, Wilcken B, Christodoulou J. Ellaway CJ, et al. Among authors: wilcken b. J Paediatr Child Health. 2002 Oct;38(5):511-7. doi: 10.1046/j.1440-1754.2002.00047.x. J Paediatr Child Health. 2002. PMID: 12354271 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

234 results

Search Page

Filters