Blau N - Search Results

1

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

Ramaekers VT, Senderek J, Häusler M, Häring M, Abeling N, Zerres K, Bergmann C, Heimann G, Blau N. Ramaekers VT, et al. Among authors: blau n. Mol Genet Metab. 2001 Jun;73(2):179-87. doi: 10.1006/mgme.2001.3187. Mol Genet Metab. 2001. PMID: 11386854 Clinical Trial.

2

Cerebral folate deficiency: a neurometabolic syndrome?

Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: blau n. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328

3

Analysis of 5-methyltetrahydrofolate in serum of healthy children.

Opladen T, Ramaekers VT, Heimann G, Blau N. Opladen T, et al. Among authors: blau n. Mol Genet Metab. 2006 Jan;87(1):61-5. doi: 10.1016/j.ymgme.2005.08.011. Epub 2005 Nov 28. Mol Genet Metab. 2006. PMID: 16310391

4

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT. Abeling NG, et al. Among authors: blau n. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. doi: 10.1016/j.ymgme.2006.03.010. Epub 2006 May 2. Mol Genet Metab. 2006. PMID: 16650784

5

Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.

Adamsen D, Meili D, Blau N, Thöny B, Ramaekers V. Adamsen D, et al. Among authors: blau n. Mol Genet Metab. 2011 Mar;102(3):368-73. doi: 10.1016/j.ymgme.2010.11.162. Epub 2010 Nov 29. Mol Genet Metab. 2011. PMID: 21183371 Free article.

6

Cerebral folate deficiency.

Ramaekers VT, Blau N. Ramaekers VT, et al. Among authors: blau n. Dev Med Child Neurol. 2004 Dec;46(12):843-51. doi: 10.1017/s0012162204001471. Dev Med Child Neurol. 2004. PMID: 15581159 Free article.

7

Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution.

Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N. Ramaekers VT, et al. Among authors: blau n. Neuropediatrics. 2002 Dec;33(6):301-8. doi: 10.1055/s-2002-37082. Neuropediatrics. 2002. PMID: 12571785 Free article.

8

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Among authors: blau n. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425

9

Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency.

Ramaekers VT, Weis J, Sequeira JM, Quadros EV, Blau N. Ramaekers VT, et al. Among authors: blau n. Neuropediatrics. 2007 Aug;38(4):184-7. doi: 10.1055/s-2007-991150. Neuropediatrics. 2007. PMID: 18058625 Free article.

10

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.

Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV. Ramaekers VT, et al. Among authors: blau n. Neuropediatrics. 2007 Dec;38(6):276-81. doi: 10.1055/s-2008-1065354. Neuropediatrics. 2007. PMID: 18461502 Free article.

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