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L Bonafé Selected Research

autosomal recessive Spondylocostal dysostosis

7/2003A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.

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L Bonafé Research Topics

Disease

3Dopa-responsive Dystonia
09/2001 - 03/2001
2Atelosteogenesis type 2
12/2011 - 12/2008
2Diastrophic dysplasia
12/2011 - 12/2008
2Achondrogenesis type 1B
12/2011 - 12/2008
2Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
12/2011 - 12/2008
2Propionic Acidemia
12/2009 - 04/2000
2Phenylketonurias (Phenylketonuria)
09/2001 - 08/2001
1Fanconi Syndrome (Syndrome, Fanconi)
04/2016
1Microcephaly
04/2016
1Deafness (Deaf Mutism)
04/2016
1Lactic Acidosis
04/2016
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
02/2015
1Brain Diseases (Brain Disorder)
12/2008
1Congenital Disorders of Glycosylation
12/2008
1Larsen Syndrome
07/2005
1Winchester syndrome
03/2005
1Osteolysis
03/2005
1Osteolysis hereditary multicentric
03/2005
1Leukocytosis (Pleocytosis)
09/2003
1autosomal recessive Spondylocostal dysostosis
07/2003
1Cartilage-hair hypoplasia
02/2002
1due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia
09/2001
1Dystonia (Limb Dystonia)
08/2001
16-pyruvoyl-tetrahydropterin synthase deficiency
03/2001
1Inborn Genetic Diseases (Disease, Hereditary)
01/2001
1Multiple Carboxylase Deficiency (Deficiency, Multiple Carboxylase)
04/2000
1Methylmalonic acidemia
04/2000

Drug/Important Bio-Agent (IBA)

4Proteins (Proteins, Gene)FDA Link
04/2016 - 01/2001
4Neurotransmitter Agents (Neurotransmitter)IBA
09/2001 - 03/2001
3EnzymesIBA
02/2015 - 03/2001
2sapropterin (tetrahydrobiopterin)FDA Link
09/2001 - 03/2001
2PterinsIBA
08/2001 - 03/2001
2BiopterinsIBA
08/2001 - 03/2001
1Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
04/2016
1polyacrylamideIBA
04/2016
12'- chloro- 2,4- dinitro- 5'- 6- di(trifluoromethyl)diphenylamineIBA
12/2011
1Sulfate TransportersIBA
12/2008
1Polysaccharides (Glycans)IBA
12/2008
1Transferrin (beta 2 Transferrin)IBA
12/2008
1FilaminsIBA
07/2005
1Matrix Metalloproteinase 2 (Gelatinase A)IBA
03/2005
110-N-nonylacridinium orange (NAO)IBA
03/2005
1Interferon-alpha (Interferon Alfa)IBA
09/2003
1Ribonucleases (Ribonuclease)IBA
02/2002
1RNA (Ribonucleic Acid)IBA
02/2002
1sepiapterin reductaseIBA
09/2001
1Dopamine (Intropin)FDA LinkGeneric
08/2001
1AcidsIBA
08/2001
1Serotonin (5 Hydroxytryptamine)IBA
08/2001
17,8-dihydrobiopterinIBA
08/2001
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
06/2001
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
03/2001
1NeopterinIBA
03/2001
1Complement System Proteins (Complement)IBA
01/2001
13-methylcrotonyl CoA carboxylase 1 deficiencyIBA
04/2000
1Glycine (Aminoacetic Acid)FDA LinkGeneric
04/2000
13-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyIBA
04/2000