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Maria Luı́s Cardoso

Observed names: Cardoso, Maria Luis, Cardoso, Maria Luís, Cardoso,Maria Luís, Luís Cardoso, Maria, M Luís Cardoso, M. L. Cardoso, M. Luis Cardoso, M.L Cardoso, M.L. Cardoso, ML Cardoso, Maria L. Cardoso, Maria Luis Cardoso, Maria Luís Cardoso, Maria Luís Moral Westerman Cardoso
Observed institutions: University of Lisbon, Universidade do Porto, Centro de Genética Clínica, National Institute of Health Dr. Ricardo Jorge, Instituto de Biologia Molecular e Celular, Institut National des Sciences Appliquées de Lyon
ORCID: 0000-0002-8139-216X
Observed ORCID: 0000-0002-8139-216X
OpenAlex ID: A5028602064
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
2004 · Lı́gia S Almeida, Nanda M Verhoeven, et al. · Molecular Genetics and Metabolism · 135
l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients
1997 · Clara Barbot, Isabel Fineza, et al. · Brain and Development · 86
Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients
2011 · M Barbosa, A Lopes, et al. · Clinical Genetics · 45
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin
2005 · L. Vilarinho, M.L. Cardoso, et al. · Human Mutation · 43
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Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography–mass spectrometry
2004 · Carla Valongo, Maria Luı́s Cardoso, et al. · Clinica Chimica Acta · 42
Glycogen storage disease type IV presenting as hydrops fetalis
1999 · A. Alegria, E. Martins, et al. · Journal of Inherited Metabolic Disease · 39
In vivo and in vitro effects of RAD001 on bladder cancer
2011 · Carmen Vasconcelos-Nóbrega, Rosario Pinto-Leite, et al. · Urologic Oncology Seminars and Original Investigations · 35
The Use of Prealbumin Concentration as a Biomarker of Nutritional Status in Treated Phenylketonuric Patients
2010 · Júlio César Rocha, Manuela Ferreira Almeida, et al. · Annals of Nutrition and Metabolism · 32
Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
2013 · E. Santos Silva, M. L. Cardoso, et al. · JIMD Reports · 30
Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases
2011 · Esmeralda Martins, M. Luis Cardoso, et al. · Journal of Inherited Metabolic Disease · 30
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency
2004 · M.L Cardoso, M.R Rodrigues, et al. · Molecular Genetics and Metabolism · 30
Everolimus Enhances Gemcitabine-Induced Cytotoxicity in Bladder-Cancer Cell Lines
2012 · Rosário Pinto-Leite, Regina Arantes-Rodrigues, et al. · Journal of Toxicology and Environmental Health · 26
Quantitative analysis of five sterols in amniotic fluid by GC–MS: Application to the diagnosis of cholesterol biosynthesis defects
2010 · C. Amaral, E. Gallardo, et al. · Journal of Chromatography B · 26
Incidence of 3‐hydroxy‐3‐methylglutaryl‐coenzyme A lyase (HL) deficiency in Brazil, South America
2007 · C. R. Vargas, A. Sitta, et al. · Journal of Inherited Metabolic Disease · 23
Mutational spectrum of classical galactosaemia in Spain and Portugal
2006 · L. Gort, M. D. Boleda, et al. · Journal of Inherited Metabolic Disease · 22
Early‐onset hyperargininaemia: A severe disorder?
2009 · M. Schiff, J.‐F. Benoist, et al. · Journal of Inherited Metabolic Disease · 16
Liver transplantation in a case of argininaemia
2001 · E. Santos Silva, E. Martins, et al. · Journal of Inherited Metabolic Disease · 16
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Macrocephaly as the presenting feature of l ‐2‐hydroxyglutaric aciduria in a 5‐month‐old boy
1996 · L. Diogo, I. Fineza, et al. · Journal of Inherited Metabolic Disease · 16
The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients
1999 · L. Vilarinho, R. Chorão, et al. · Journal of Inherited Metabolic Disease · 15
Mitochondrial DNA Analysis in Ocular Myopathy
1998 · Laura Vilarinho, Filippo M. Santorelli, et al. · European Neurology · 14
Lethal dilated cardiomyopathy due to long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency
1996 · E. Martins, A. Costa, et al. · Journal of Inherited Metabolic Disease · 13
Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7
2005 · M.L. Cardoso, A. Balreira, et al. · Molecular Genetics and Metabolism · 12
A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utility
2025 · Angelo Maria Pezzullo, Angelica Valz Gris, et al. · Journal of Clinical Epidemiology · 8
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Living with inborn errors of cholesterol biosynthesis: lessons from adult patients
2013 · M.L. Cardoso, M. Barbosa, et al. · Clinical Genetics · 5
3‐Hydroxy‐3‐methylglutaric aciduria in Portuguese population
1993 · L. Vilarinho, M. L. Cardoso, et al. · Journal of Inherited Metabolic Disease · 5
Works count: 61
Citation count: 779
H-index: 16
I10-index: 22
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