Earl J - Search Results

1

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Ware TL, Earl J, Salomons GS, Struys EA, Peters HL, Howell KB, Pitt JJ, Freeman JL. Ware TL, et al. Among authors: earl j. Dev Med Child Neurol. 2014 May;56(5):498-502. doi: 10.1111/dmcn.12346. Epub 2013 Nov 23. Dev Med Child Neurol. 2014. PMID: 24266778 Free article.

2

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

Balasubramaniam S, Bowling F, Carpenter K, Earl J, Chaitow J, Pitt J, Mornet E, Sillence D, Ellaway C. Balasubramaniam S, et al. Among authors: earl j. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S25-33. doi: 10.1007/s10545-009-9012-y. Epub 2010 Jan 5. J Inherit Metab Dis. 2010. PMID: 20049532

3

Familial paroxysmal exercise-induced dystonia: atypical presentation of autosomal dominant GTP-cyclohydrolase 1 deficiency.

Dale RC, Melchers A, Fung VS, Grattan-Smith P, Houlden H, Earl J. Dale RC, et al. Among authors: earl j. Dev Med Child Neurol. 2010 Jun;52(6):583-6. doi: 10.1111/j.1469-8749.2010.03619.x. Epub 2010 Feb 19. Dev Med Child Neurol. 2010. PMID: 20187889 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: earl j. 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

Cerebrospinal fluid neopterin in paediatric neurology: a marker of active central nervous system inflammation.

Dale RC, Brilot F, Fagan E, Earl J. Dale RC, et al. Among authors: earl j. Dev Med Child Neurol. 2009 Apr;51(4):317-23. doi: 10.1111/j.1469-8749.2008.03225.x. Epub 2009 Jan 26. Dev Med Child Neurol. 2009. PMID: 19191826 Free article.

6

Vitamin A status in preterm neonates with and without chronic lung disease.

Chabra S, Arnold JD, Leslie GI, Bowen JR, Earl J, Wood F. Chabra S, et al. Among authors: earl j. J Paediatr Child Health. 1994 Oct;30(5):432-5. doi: 10.1111/j.1440-1754.1994.tb00695.x. J Paediatr Child Health. 1994. PMID: 7833081

7

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: earl jw. J Inherit Metab Dis. 1991;14(1):49-52. doi: 10.1007/BF01804388. J Inherit Metab Dis. 1991. PMID: 1861459

8

B Cell, Th17, and Neutrophil Related Cerebrospinal Fluid Cytokine/Chemokines Are Elevated in MOG Antibody Associated Demyelination.

Kothur K, Wienholt L, Tantsis EM, Earl J, Bandodkar S, Prelog K, Tea F, Ramanathan S, Brilot F, Dale RC. Kothur K, et al. Among authors: earl j. PLoS One. 2016 Feb 26;11(2):e0149411. doi: 10.1371/journal.pone.0149411. eCollection 2016. PLoS One. 2016. PMID: 26919719 Free PMC article.

9

Halothane in children with chronic liver disease.

Wark H, Earl J, Cooper M, Overton J. Wark H, et al. Among authors: earl j. Anaesth Intensive Care. 1991 Feb;19(1):9-16. doi: 10.1177/0310057X9101900102. Anaesth Intensive Care. 1991. PMID: 2012303

10

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: earl j. Mov Disord. 2002 Mar;17(2):354-9. doi: 10.1002/mds.10095. Mov Disord. 2002. PMID: 11921123

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