Soorani-Lunsing RJ - Search Results

1

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: soorani lunsing rj. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854

2

Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall.

Soorani-Lunsing RJ, van Spronsen FJ, Stolte-Dijkstra I, Wanders RJ, Ferdinandusse S, Waterham HR, Poll-The BT, Rake JP. Soorani-Lunsing RJ, et al. J Inherit Metab Dis. 2005;28(6):1172-4. doi: 10.1007/s10545-005-0149-z. J Inherit Metab Dis. 2005. PMID: 16435222

3

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

Verbruggen KT, Knijff WA, Soorani-Lunsing RJ, Sijens PE, Verhoeven NM, Salomons GS, Goorhuis-Brouwer SM, van Spronsen FJ. Verbruggen KT, et al. Among authors: soorani lunsing rj. Eur J Pediatr. 2007 Sep;166(9):921-5. doi: 10.1007/s00431-006-0340-8. Epub 2006 Dec 21. Eur J Pediatr. 2007. PMID: 17186272

4

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?

van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. van Spronsen FJ, et al. Among authors: soorani lunsing rj. Mol Genet Metab. 2006 Nov;89(3):274-6. doi: 10.1016/j.ymgme.2006.02.005. Epub 2006 Apr 3. Mol Genet Metab. 2006. PMID: 16580861

5

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.

Sijens PE, Reijngoud DJ, Soorani-Lunsing RJ, Oudkerk M, van Spronsen FJ. Sijens PE, et al. Among authors: soorani lunsing rj. Mol Genet Metab. 2006 May;88(1):100-2. doi: 10.1016/j.ymgme.2005.10.013. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343968

6

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.

Sijens PE, Verbruggen KT, Meiners LC, Soorani-Lunsing RJ, Rake JP, Oudkerk M. Sijens PE, et al. Among authors: soorani lunsing rj. Eur Radiol. 2005 Sep;15(9):1923-6. doi: 10.1007/s00330-005-2670-8. Epub 2005 Apr 27. Eur Radiol. 2005. PMID: 15856249

7

1H MR spectroscopy of the brain in Cr transporter defect.

Sijens PE, Verbruggen KT, Oudkerk M, van Spronsen FJ, Soorani-Lunsing RJ. Sijens PE, et al. Among authors: soorani lunsing rj. Mol Genet Metab. 2005 Nov;86(3):421-2. doi: 10.1016/j.ymgme.2005.08.004. Mol Genet Metab. 2005. PMID: 16169765 No abstract available.

8

Is minor neurological dysfunction at 12 years related to behaviour and cognition?

Soorani-Lunsing RJ, Hadders-Algra M, Olinga AA, Huisjes HJ, Touwen BC. Soorani-Lunsing RJ, et al. Dev Med Child Neurol. 1993 Apr;35(4):321-30. doi: 10.1111/j.1469-8749.1993.tb11644.x. Dev Med Child Neurol. 1993. PMID: 8335147

9

Neurobehavioural relationships after the onset of puberty.

Soorani-Lunsing RJ, Hadders-Algra M, Huisjes HJ, Touwen BC. Soorani-Lunsing RJ, et al. Dev Med Child Neurol. 1994 Apr;36(4):334-43. doi: 10.1111/j.1469-8749.1994.tb11854.x. Dev Med Child Neurol. 1994. PMID: 8157156

10

Minor neurological dysfunction after the onset of puberty: association with perinatal events.

Soorani-Lunsing RJ, Hadders-Algra M, Huisjes HJ, Touwen BC. Soorani-Lunsing RJ, et al. Early Hum Dev. 1993 Apr;33(1):71-80. doi: 10.1016/0378-3782(93)90174-s. Early Hum Dev. 1993. PMID: 8319556

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