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Items: 11

1.

Genetics of ectopia lentis.

Sadiq MA, Vanderveen D.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Review.

PMID:
24138040
2.

Epilepsy in inborn errors of metabolism.

Bahi-Buisson N, Dulac O.

Handb Clin Neurol. 2013;111:533-41. doi: 10.1016/B978-0-444-52891-9.00056-7. Review.

PMID:
23622201
3.

Disorders of amino acid metabolism associated with epilepsy.

Lee WT.

Brain Dev. 2011 Oct;33(9):745-52. doi: 10.1016/j.braindev.2011.06.014. Epub 2011 Jul 30. Review.

PMID:
21803516
4.

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PMID:
21031595
5.

Elucidating the catalytic mechanism of sulfite oxidizing enzymes using structural, spectroscopic, and kinetic analyses.

Johnson-Winters K, Tollin G, Enemark JH.

Biochemistry. 2010 Aug 31;49(34):7242-54. doi: 10.1021/bi1008485. Review.

6.

Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.

Karakas E, Kisker C.

Dalton Trans. 2005 Nov 7;(21):3459-63. Epub 2005 Sep 26. Review.

PMID:
16234925
7.

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE.

Pediatrics. 2005 Sep;116(3):757-66. Review. Erratum in: Pediatrics. 2005 Dec;116(6):1615.

PMID:
16140720
8.
9.

[Isolated sulfite oxidase deficiency].

Matsuishi T, Wada N, Isakai T, Togo A.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):189-91. Review. Japanese. No abstract available.

PMID:
9645040
10.

Clinical approach to inherited metabolic disorders in neonates.

Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A.

Biol Neonate. 1990;58 Suppl 1:44-53. Review.

PMID:
2265219

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