Bonafé L - Search Results

1

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

Blau N, Bonafé L, Thöny B. Blau N, et al. Among authors: bonafe l. Mol Genet Metab. 2001 Sep-Oct;74(1-2):172-85. doi: 10.1006/mgme.2001.3213. Mol Genet Metab. 2001. PMID: 11592814 Review.

2

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.

Fiege B, Bonafé L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N. Fiege B, et al. Among authors: bonafe l. Mol Genet Metab. 2005 Dec;86 Suppl 1:S91-5. doi: 10.1016/j.ymgme.2005.09.014. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290003

3

Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.

Bonafé L, Troxler H, Kuster T, Heizmann CW, Chamoles NA, Burlina AB, Blau N. Bonafé L, et al. Mol Genet Metab. 2000 Apr;69(4):302-11. doi: 10.1006/mgme.2000.2982. Mol Genet Metab. 2000. PMID: 10870848

4

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

Bonafé L, Thöny B, Leimbacher W, Kierat L, Blau N. Bonafé L, et al. Clin Chem. 2001 Mar;47(3):477-85. Clin Chem. 2001. PMID: 11238300

5

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Bonafé L, et al. Am J Hum Genet. 2001 Aug;69(2):269-77. doi: 10.1086/321970. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443547 Free PMC article.

6

A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping.

Skrygan M, Bartholomé B, Bonafé L, Blau N, Bartholomé K. Skrygan M, et al. Among authors: bonafe l. J Inherit Metab Dis. 2001 Jun;24(3):345-51. doi: 10.1023/a:1010544316387. J Inherit Metab Dis. 2001. PMID: 11486899

7

Treatable neurotransmitter deficiency in mild phenylketonuria.

Bonafé L, Blau N, Burlina AP, Romstad A, Güttler F, Burlina AB. Bonafé L, et al. Neurology. 2001 Sep 11;57(5):908-11. doi: 10.1212/wnl.57.5.908. Neurology. 2001. PMID: 11552030

8

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

Blau N, Bonafé L, Krägeloh-Mann I, Thöny B, Kierat L, Häusler M, Ramaekers V. Blau N, et al. Among authors: bonafe l. Neurology. 2003 Sep 9;61(5):642-7. doi: 10.1212/01.wnl.0000082726.08631.e7. Neurology. 2003. PMID: 12963755

9

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I. Meili D, et al. Among authors: bonafe l. Hum Mutat. 2009 May;30(5):823-31. doi: 10.1002/humu.20969. Hum Mutat. 2009. PMID: 19280650

10

Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency.

Oexle K, Bonafé L, Steinmann B. Oexle K, et al. Among authors: bonafe l. Mol Genet Metab. 2002 May;76(1):71-5. doi: 10.1016/s1096-7192(02)00025-2. Mol Genet Metab. 2002. PMID: 12175784

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