E. Teles

发表

Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.

R. Dwek, P. Argibay, G. Matthijs, 2003, Glycobiology.

Paediatric dilated cardiomyopathy: clinical profile and outcome. The experience of a tertiary centre for paediatric cardiology

E. Rodrigues, J. Areias, E. Teles, 2014, Cardiology in the Young.

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

R. Ramos, I. Rivera, S. Paiva, 2014, Journal of Inherited Metabolic Disease.

Congenital Disorders of Glycosylation in Portugal - Two Decades of Experience.

G. Matthijs, E. Souche, V. Racé, 2020, The Journal of pediatrics.

Mutational Spectrum and Linkage Disequilibrium Patterns at the Ornithine Transcarbamylase Gene (OTC)

A. Amorim, E. Martins, L. Diogo, 2006, Annals of human genetics.

Radiologic and neuroradiologic findings in the mucopolysaccharidoses.

E. Teles, R. Lachman, M. Basto, 2010, Journal of pediatric rehabilitation medicine.

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

J. Wittes, R. Giugliani, J. E. Wraith, 2006, The Journal of pediatrics.

Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals

C. de Freitas, H. Machado, Susana Silva, 2022, International journal of environmental research and public health.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2008, Molecular genetics and metabolism.

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil

C. Hendriksz, D. Hughes, E. Teles, 2021, Journal of inherited metabolic disease.

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Julie A. Johnson, E. Teles, P. Harmatz, 2019, Molecular genetics and metabolism.

Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase

R. Giugliani, J. Hopwood, E. Teles, 2005, Pediatrics.

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome)

R. Giugliani, J. Hopwood, E. Teles, 2005, American journal of medical genetics. Part A.

Role of RNA in Molecular Diagnosis of MADD Patients

E. Rodrigues, L. Vilarinho, E. Teles, 2021, Biomedicines.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

Novel MTO1 mutations associated with an intrafamilial phenotypic variability

E. Rodrigues, L. Vilarinho, E. Teles, 2023, Egyptian Journal of Medical Human Genetics.

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Zi-Fan Yu, Maurizio Scarpa, Paul Harmatz, 2010, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

P. Kaplan, R. Steiner, R. Giugliani, 2010, Journal of pediatric rehabilitation medicine.

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Julie A. Johnson, E. Teles, P. Harmatz, 2019, Journal of inherited metabolic disease.

Research on the knowledge of students of sciences accounting method to balanced scorecard

Ventura da Motta, Rosana da Rosa, Portella Tondolo, 2013 .

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Rabdomiomas Cardíacos no Recém-Nascido: Um Caso Clínico

J. Areias, E. Teles, António Vieira, 1998 .

Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients.

E. Martins, P. Garcia, L. Vilarinho, 2013, Gene.

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

M. L. Cardoso, E. Martins, E. Rodrigues, 2011, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis type VI enzyme replacement therapy initiated in adulthood: Findings from the MPS VI clinical surveillance program

Julie A. Johnson, E. Teles, P. Harmatz, 2018 .

Incidence of maple syrup urine disease in Portugal.

A. Amorim, E. Martins, L. Diogo, 2010, Molecular genetics and metabolism.

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.

A. Amorim, E. Martins, L. Diogo, 2008, Molecular genetics and metabolism.

How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report.

E. Rodrigues, E. Teles, André Morais, 2023, Endocrinologia, diabetes y nutricion.

Incidence of maple syrup urine disease in Portugal.

A. Amorim, E. Martins, L. Diogo, 2010, Molecular genetics and metabolism.