Luisa Bonafe

Luisa Bonafe

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Luisa Bonafe

Luisa Bonafe

Publications by authors named "Luisa Bonafe"

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Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.

Clin Nutr 2018 08 25;37(4):1114-1120. Epub 2017 Jul 25.

Service of Adult Intensive Care and Burns Centre, Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.clnu.2017.07.013DOI Listing
August 2018

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Respiration 2017 16;94(1):2-13. Epub 2017 May 16.

Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1159/000475762DOI Listing
May 2018

Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.

J Cell Biol 2017 09 10;216(9):2911-2926. Epub 2017 Jul 10.

Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada

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http://dx.doi.org/10.1083/jcb.201605119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5584141PMC
September 2017

Current Care and Investigational Therapies in Achondroplasia.

Curr Osteoporos Rep 2017 04;15(2):53-60

Institute de Biologie Valrose, University. Nice Sophia Antipolis, Batiment Sciences Naturelles; UFR Sciences, Parc Valrose, 28 avenue Valrose, 06108, Nice, Cedex 2, France.

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http://link.springer.com/10.1007/s11914-017-0347-2
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http://dx.doi.org/10.1007/s11914-017-0347-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435778PMC
April 2017

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.

Swiss Med Wkly 2016 20;146:w14322. Epub 2016 Jun 20.

Unité Pédiatrique de Chirurgie Orthopédique et Traumatologique UPCOT, Hôpital de l'Enfance, Lausanne University Hospital, Switzerland.

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http://dx.doi.org/10.4414/smw.2016.14322DOI Listing
March 2017

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Aug 27;10:104. Epub 2015 Aug 27.

Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-015-0315-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549897PMC
August 2015

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Eur J Paediatr Neurol 2015 Mar 11;19(2):170-5. Epub 2014 Dec 11.

Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.009DOI Listing
March 2015

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Am J Med Genet A 2014 Oct 5;164A(10):2667-71. Epub 2014 Aug 5.

Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey; Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36692DOI Listing
October 2014

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

Carnitine deficiency in chronic critical illness.

Curr Opin Clin Nutr Metab Care 2014 Mar;17(2):200-9

aCenter for Molecular Diseases, Lausanne University Hospital bAdult Intensive Care & Burns, Lausanne University Hospital, Lausanne, Switzerland cDivision of Endocrinology, Diabetes, and Bone Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1097/MCO.0000000000000037DOI Listing
March 2014

[Genetics of childhood epilepsies: for who? how? why?].

Rev Med Suisse 2014 Jan;10(412-413):110-1

Unité de Neuropédiatrie et Neuroréhabelitation Pédiatrique, CHUV, Lausanne.

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January 2014

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3161-5. Epub 2013 Aug 16.

Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36173DOI Listing
December 2013

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.

PLoS One 2013 10;8(1):e53735. Epub 2013 Jan 10.

Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053735PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542363PMC
July 2013

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

Orphanet J Rare Dis 2013 Jan 8;8. Epub 2013 Jan 8.

Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-8-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567978PMC
January 2013

New topics in the skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):143-4. Epub 2012 Jul 12.

Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31338DOI Listing
August 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

[New therapies for children affected by bone diseases].

Rev Med Suisse 2012 Feb;8(329):398-402

Division de pédiatrie moléculaire, CHUV et Université de Lausanne, 1011 Lausanne.

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February 2012

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

Mol Genet Metab 2011 Dec 2;104(4):425-37. Epub 2011 Sep 2.

Inborn Errors of Metabolism, Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.027DOI Listing
December 2011

Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.

Eur J Med Genet 2010 Sep-Oct;53(5):294-8. Epub 2010 Jun 11.

Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ejmg.2010.06.005DOI Listing
January 2011

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

J Inherit Metab Dis 2010 Dec 11;33 Suppl 3:S219-26. Epub 2010 May 11.

Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02-35, Av P Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9098-2DOI Listing
December 2010

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene.

Eur J Pediatr 2010 Mar 4;169(3):363-7. Epub 2009 Aug 4.

Department of Pediatric Nephrology and Rheumatology, Gulhane Military Medical Academy, School of Medicine, 06018 Etlik, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00431-009-1028-7DOI Listing
March 2010

[Array CGH: why and to whom].

Rev Med Suisse 2010 Feb;6(237):390-2, 394-6

Service de génétique médicale et Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne.

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February 2010

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Eur J Pediatr 2009 Aug 13;168(8):957-62. Epub 2008 Nov 13.

Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00431-008-0869-9DOI Listing
August 2009

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

Hum Mutat 2009 May;30(5):823-31

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland.

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http://dx.doi.org/10.1002/humu.20969DOI Listing
May 2009

Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Eur J Pediatr 2009 Mar 14;168(3):311-5. Epub 2008 Jun 14.

Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland.

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http://link.springer.com/10.1007/s00431-008-0756-4
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http://dx.doi.org/10.1007/s00431-008-0756-4DOI Listing
March 2009

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.

Epilepsia 2008 Nov 9;49(11):1955-8. Epub 2008 May 9.

Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01654.xDOI Listing
November 2008

Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.

Biochim Biophys Acta 2008 Mar 8;1783(3):455-66. Epub 2007 Dec 8.

Department of Biomolecular Chemistry, Nijmegen Center for Molecular Life Sciences, Institute for Molecules and Materials, Radboud University Nijmegen, PO Box 9101, NL-6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbamcr.2007.11.016DOI Listing
March 2008

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):19-32

Department of Paediatrics and Institute of Human Genetics, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.berh.2007.11.009DOI Listing
March 2008

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Am J Med Genet A 2005 Jun;135(3):324-7

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30754DOI Listing
June 2005

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation.

Clin Dysmorphol 2005 Jan;14(1):7-11

Department of Orthopaedics and Traumatology, Zonguldak Karaelmas University, Turkey.

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January 2005

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.

Am J Med Genet A 2004 Dec;131(3):299-300

Division of Molecular Pediatrics, CHUV, University of Lausanne, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.30366
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http://dx.doi.org/10.1002/ajmg.a.30366DOI Listing
December 2004

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Am J Med Genet A 2004 Aug;129A(2):144-8

Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.30222DOI Listing
August 2004

Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.

Rheumatol Int 2004 Jan 18;24(1):53-6. Epub 2003 Jun 18.

Center for Pediatrics and Adolescent Medicine, University Clinic, Mathildenstrasse 1, 79106 Freiburg, Germany.

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http://dx.doi.org/10.1007/s00296-003-0341-0DOI Listing
January 2004

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Am J Med Genet A 2003 Oct;122A(3):187-92

Center for the Study of Heritable Connective Tissue Diseases, Research Institute, University of Toronto, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20282DOI Listing
October 2003

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

Mol Genet Metab 2002 May;76(1):71-5

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

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May 2002