A. Gaspar

发表

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

Madalena Barroso, R. Ramos, I. Rivera, 2011, Molecular genetics and metabolism.

Coarse face, hypotonia, and neurodevelopmental regression

L. Vilarinho, J. Dupont, Paulo Gaspar, 2020 .

Systemic lupus erythematosus and ANCA-associated vasculitis overlap syndrome: A case report and literature review of poliautoimmunity

Afonso Santos, A. Gaspar, K. Soto, 2021 .

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.

Variable expression and penetrance in Portuguese families with Familial Hypercholesterolemia with mild phenotype.

A. Gaspar, I. Gaspar, 2019, Atherosclerosis. Supplements.

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

A. Amorim, E. Martins, L. Diogo, 2021, Molecular genetics & genomic medicine.

[Assessment of iron requirements during treatment of anemia with recombinant human erythropoietin in patients with chronic renal insufficiency under hemodialysis].

T. Adragão, A. Gaspar, H. Boquinhas, 1992, Acta medica portuguesa.

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

I. Rivera, I. Tavares de Almeida, Ana P. Pinheiro, 2008, European Journal of Pediatrics.

Renal transplantation and evolution of hemochromatosis: a clinical case report.

C. Jorge, D. Machado, A. Gaspar, 2000, Transplantation proceedings.

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

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection

L. Vilarinho, I. Tavares de Almeida, C. Florindo, 2022, Nutrients.

Unexpected success in early post-transplantation renal vein thrombosis: A case report and literature review

C. Jorge, A. Martinho, A. Weigert, 2021, Clinical nephrology. Case studies.

Calciphylaxis: A successful outcome whilst on peritoneal dialysis

A. Cabrita, A. Rodrigues, A. Gaspar, 2019 .

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

M. Baumgartner, B. Seifert, H. Blom, 2019, Journal of inherited metabolic disease.

Role of RNA in Molecular Diagnosis of MADD Patients

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

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.

E. Martins, L. Vilarinho, C. Gomes, 2019, Current molecular medicine.

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

I. Rivera, J. B. Vicente, L. Diogo, 2014, European Journal of Human Genetics.

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.

E. Martins, E. Rodrigues, L. Vilarinho, 2019, Mitochondrion.

Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.

Madalena Barroso, I. Rivera, I. Tavares de Almeida, 2016, Gene.

NGLY1 deficiency—A rare congenital disorder of deglycosylation

S. Quintas, A. Sousa, J. Dupont, 2020, JIMD reports.

Prevention of cytomegalovirus disease in renal transplantation: single-center experience.

M. Bruges, A. Weigert, D. Machado, 2009, Transplantation proceedings.

Therapeutic plasma exchange in patients in a portuguese ICU

A. Aufico, Afonso Santos, A. Gaspar, 2020 .

Vancomycin Adsorption During in vitro Model of Hemoperfusion with HA380 Cartridge

C. Ronco, A. Lorenzin, P. Navalesi, 2021, Nephron.

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era

R. Ramos, L. Vilarinho, I. Tavares de Almeida, 2019, European Journal of Pediatrics.

Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit

O. Moldovan, M. Vieira, P. Janeiro, 2020, Journal of Pediatric Intensive Care.

Response to the Letter to the Editor: Inborn Errors in Pediatric Intensive Care Unit: Much More to Understand

O. Moldovan, M. Vieira, P. Janeiro, 2021, Journal of Pediatric Intensive Care.

Leukocyte Imbalances in Mucopolysaccharidoses Patients

E. Martins, E. Rodrigues, R. Giugliani, 2023, Biomedicines.

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series.

M. O'Callaghan, M. Pineda, M. Vilaseca, 2010, Molecular genetics and metabolism.

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

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

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.

Incidence of maple syrup urine disease in Portugal.

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

Retrospective study of the medium‐chain acyl‐CoA dehydrogenase deficiency in Portugal

R. Ramos, I. Rivera, E. Martins, 2014, Clinical genetics.