Diogo Luísa

Diogo Luísa

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Diogo Luísa

Diogo Luísa

Publications by authors named "Diogo Luísa"

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1PubMed Central Citations

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

[Acute liver failure related to inherited metabolic diseases in young children].

An Pediatr (Barc) 2018 Feb 12;88(2):69-74. Epub 2017 Apr 12.

Serviço de Cuidados Intensivos Pediátricos, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.anpedi.2017.02.012DOI Listing
February 2018

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Cell 2018 02;172(5):952-965.e18

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris 75015, France; Paris Descartes University, Imagine Institute, Paris 75015, France; Howard Hughes Medical Institute, New York, NY 10065, USA; Pediatric Immunology-Hematology Unit, Necker Hospital for Sick Children, Paris 75015, France.

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http://dx.doi.org/10.1016/j.cell.2018.02.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886375PMC
February 2018

Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".

Eur J Med Genet 2018 01 12;61(1):46-47. Epub 2017 Aug 12.

Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.008DOI Listing
January 2018

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Eur J Med Genet 2017 Aug 30;60(8):426-432. Epub 2017 May 30.

Centro de Desenvolvimento da Criança, Hospital Pediátrico, CHUC, Coimbra, Portugal; Serviço de Bioquímica, Faculdade de Medicina, Universidade de Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.ejmg.2017.05.005DOI Listing
August 2017

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

Eur J Med Genet 2017 Mar 24;60(3):172-177. Epub 2016 Dec 24.

Faculty of Medicine, University of Coimbra, PA 3000-354, Portugal; Center for Neuroscience and Cell Biology, University of Coimbra - Laboratory of Biochemical Genetics, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.12.009DOI Listing
March 2017

Galactose Epimerase Deficiency: Expanding the Phenotype.

JIMD Rep 2017 1;37:19-25. Epub 2017 Mar 1.

Unidade de Doenças Metabólicas, Centro de Desenvolvimento da Criança, Hospital Pediátrico - Centro Hospitalar e Universitário de Coimbra, EPE, Avenida Afonso Romão, Coimbra, 3000-206, Portugal.

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http://dx.doi.org/10.1007/8904_2017_10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740041PMC
March 2017

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

Mitochondrion 2016 Nov 15;31:84-88. Epub 2016 Oct 15.

CNC - Center for Neuroscience and Cell Biology, Biochemical Genetics Laboratory, University of Coimbra, Portugal; Faculty of Medicine, University of Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2016.10.004DOI Listing
November 2016

Phenotyping GABA transaminase deficiency: a case description and literature review.

J Inherit Metab Dis 2016 09 4;39(5):743-747. Epub 2016 Jul 4.

Centro Hospitalar e Universitário de Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10545-016-9951-zDOI Listing
September 2016

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

JIMD Rep 2017 30;33:61-68. Epub 2016 Aug 30.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1007/8904_2016_581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413444PMC
August 2016

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

J Inherit Metab Dis 2015 Sep 3;38(5):889-94. Epub 2015 Feb 3.

Department of Clinical Chemistry, Neuroscience Campus Amsterdam, VU University Medical Center, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9809-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551550PMC
September 2015

Functional correction by antisense therapy of a splicing mutation in the GALT gene.

Eur J Hum Genet 2015 Apr 23;23(4):500-6. Epub 2014 Jul 23.

1] Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal [2] Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.149
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http://dx.doi.org/10.1038/ejhg.2014.149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4666580PMC
April 2015

[Cerebral creatine deficiency syndromes].

Acta Med Port 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28.

Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

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March 2014

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

J Inherit Metab Dis 2014 Jan 8;37(1):43-52. Epub 2013 Jun 8.

Metabolism & Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL), Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1643-009, Lisbon, Portugal.

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http://dx.doi.org/10.1007/s10545-013-9623-1DOI Listing
January 2014

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Epileptic Disord 2013 Dec;15(4):400-6

Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.

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http://link.springer.com/content/pdf/10.1684/epd.2013.0610.p
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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ep
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http://dx.doi.org/10.1684/epd.2013.0610DOI Listing
December 2013

Antenatal manifestations of mitochondrial disorders.

J Inherit Metab Dis 2013 Sep 30;36(5):805-11. Epub 2013 Jan 30.

Obstetric Unit, University Hospital of Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10545-012-9567-xDOI Listing
September 2013

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Orphanet J Rare Dis 2013 Jul 10;8:102. Epub 2013 Jul 10.

Unidad de Diagnóstico y Tratamiento de Enfermedades Congénitas del Metabolismo, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1186/1750-1172-8-102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718718PMC
July 2013

Nonketotic hyperglycinemia: a cause of encephalopathy in children.

J Child Neurol 2013 Feb 24;28(2):251-4. Epub 2012 Apr 24.

Centro de Neurociências e Biologia Celular, Universidade de Coimbra, Laboratório de Bioquímica Genética, Coimbra, Portugal.

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http://dx.doi.org/10.1177/0883073812441063DOI Listing
February 2013

Skeletal complications in mucopolysaccharidosis VI patients: Case reports.

J Pediatr Rehabil Med 2010 ;3(1):63-9

Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.3233/PRM-2010-0108DOI Listing
October 2012

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

J Child Neurol 2012 Aug 12;27(8):1059-61. Epub 2012 Jan 12.

Centro de Desenvolvimento Dr Luís Borges, Hospital Pediátrico de Coimbra, CHC, Coimbra, Portugal.

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http://dx.doi.org/10.1177/0883073811431015DOI Listing
August 2012

Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients.

J Inherit Metab Dis 2012 May 22;35(3):443-9. Epub 2011 Dec 22.

Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculdade de Farmácia da Universidade de Lisboa, Lisboa, Portugal.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9423
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http://link.springer.com/10.1007/s10545-011-9423-4
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http://dx.doi.org/10.1007/s10545-011-9423-4DOI Listing
May 2012

Neonatal liver failure due to deoxyguanosine kinase deficiency.

BMJ Case Rep 2012 Apr 2;2012. Epub 2012 Apr 2.

Serviço de Medicina, Unidade de Gastrenterologia eHepatologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.12.2011.5317
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http://dx.doi.org/10.1136/bcr.12.2011.5317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339167PMC
April 2012

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

Pediatr Neurol 2012 Jan;46(1):39-41

Unidade de Doenças Metabólicas, Centro de Desenvolvimento Luís Borges, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.10.005DOI Listing
January 2012

Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation.

Biochem Pharmacol 2011 Dec 6;82(11):1740-6. Epub 2011 Aug 6.

Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, University of Lisbon, Lisbon, Portugal.

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http://linkinghub.elsevier.com/retrieve/pii/S000629521100648
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http://dx.doi.org/10.1016/j.bcp.2011.07.103DOI Listing
December 2011

Incidence of maple syrup urine disease in Portugal.

Mol Genet Metab 2010 Aug 22;100(4):385-7. Epub 2010 Apr 22.

IPATIMUP - Institute of Pathology and Molecular Immunology, University of Porto, Portugal.

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http://dx.doi.org/10.1016/j.ymgme.2010.04.007DOI Listing
August 2010

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

Pediatr Neurol 2010 Mar;42(3):196-200

Metabolic Diseases Unit, Luís Borges Center for Child Development, Pediatric Hospital of Coimbra-CHC EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.010DOI Listing
March 2010

Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.

Pediatr Neurol 2009 May;40(5):351-6

Center for Child Development Luís Borges, Pediatric Hospital of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.012DOI Listing
May 2009

Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease.

Metab Eng 2009 May 4;11(3):155-62. Epub 2009 Feb 4.

NMR Research Unit, Department of Biochemistry and Center for Neurosciences and Cell Biology, Faculty of Sciences and Technology, University of Coimbra, 3001-401 Coimbra, Portugal.

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http://linkinghub.elsevier.com/retrieve/pii/S109671760900007
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http://dx.doi.org/10.1016/j.ymben.2009.01.003DOI Listing
May 2009

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

J Hum Genet 2008 11;53(6):565-72. Epub 2008 Mar 11.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, INSA, Porto, Portugal.

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http://dx.doi.org/10.1007/s10038-008-0263-5DOI Listing
August 2008

Outcome of three cases of untreated maternal glutaric aciduria type I.

Eur J Pediatr 2008 May 28;167(5):569-73. Epub 2007 Jul 28.

Hospital Pediátrico de Coimbra, Av. Bissaya Barreto, 3000 Coimbra, Portugal.

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http://dx.doi.org/10.1007/s00431-007-0556-2DOI Listing
May 2008

Quantification of hepatic transaldolase exchange activity and its effects on tracer measurements of indirect pathway flux in humans.

Magn Reson Med 2008 Feb;59(2):423-9

NMR Research Unit, Department of Biochemistry and Center for Neurosciences and Cell Biology, University of Coimbra, Portugal.

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http://dx.doi.org/10.1002/mrm.21451DOI Listing
February 2008

Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.

Blood Cells Mol Dis 2007 Jul-Aug;39(1):96-101. Epub 2007 Mar 21.

Escola Superior de Saúde, Instituto Politécnico de Bragança, Bragança, Portugal.

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http://dx.doi.org/10.1016/j.bcmd.2007.02.002DOI Listing
September 2007

Null mutations and lethal congenital form of glycogen storage disease type IV.

Biochem Biophys Res Commun 2007 Sep 24;361(2):445-50. Epub 2007 Jul 24.

Muscular and Neurodegenerative Disease Unit, Department of Pediatrics, Istituto Giannina Gaslini, University of Genova, Largo G. Gaslini 5, I-16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2007.07.074DOI Listing
September 2007

Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy.

NMR Biomed 2007 Jun;20(4):401-12

CICECO, Department of Chemistry, Campus Universitário de Santiago, University of Aveiro, 3810-193 Aveiro, Portugal.

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http://doi.wiley.com/10.1002/nbm.1073
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http://dx.doi.org/10.1002/nbm.1073DOI Listing
June 2007

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.

Eur J Paediatr Neurol 2007 Mar 24;11(2):115-8. Epub 2007 Jan 24.

Biochemistry Institute, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.ejpn.2006.11.015DOI Listing
March 2007

[Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis].

Acta Med Port 2004 Jan-Feb;17(1):67-9. Epub 2004 Feb 27.

Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra.

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January 2006