Results 11 to 20 of about 289 (112)
Establishing a Research Agenda for Physiotherapy in Portugal: A Delphi Study. [PDF]
Physiother Res IntABSTRACT Background As physiotherapy research advances, identifying knowledge gaps and setting priorities is crucial for enhancing its efficiency in national and international collaborations. This study aimed to establish a physiotherapy research agenda in Portugal by integrating perspectives from physiotherapists and users of physiotherapy services ...
Silva I +7 more
europepmc +2 more sources
CDG due to Defective Membrane Transporters: Update. [PDF]
J Inherit Metab DisABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
Quelhas D, Ferreira CR, Jaeken J.
europepmc +2 more sources
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Médica Portuguesa, 2023 Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô +10 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2017 Background: In maternal PKU, protein substitute (PS) is provided by phenylalanine (PHE)-free l-amino acids (AA), but glycomacropeptide-based protein substitute (GMP) is an alternative consideration.
A. Pinto +10 more
doaj +1 more source
Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test
Journal of Inborn Errors of Metabolism and Screening, 2018 In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT.
Catarina Sousa Barbosa BSc +11 more
doaj +1 more source
Contribuição ao estudo das doenças hereditárias
Memorias do Instituto Oswaldo Cruz, 1945 Em revisão de conhecimentos sobre doenças hereditárias foi verificada em várias dessas heredopatias (anemia de hemátias em alvo, icterícia hemolítica heredo-familiar. anemia ovalocítica, anemia perniciosa de BIERMER, trombopatia constitucional, distrofia
Ernani Martins da Silva
doaj +1 more source
Profilaxia das doenças hereditárias do eritrócito.
Acta Médica Portuguesa, 1995 The authors report the importance of not only all over the world but also in Portugal and, particularly, in Dona Estefânia Hospital. Some considerations are made about the usefulness of molecular biology methods in prenatal diagnosis.
S Lamy +5 more
doaj +1 more source
Terapia gênica para doenças da retina [PDF]
Revista Brasileira de OftalmologiaRESUMO Este artigo de atualização tem como objetivo discutir as principais terapias genéticas em estudo para uso nas doenças da retina, principalmente entre as diferentes distrofias hereditárias da retina.
Mariana Matioli da Palma +2 more
doaj +1 more source
Hematology, Transfusion and Cell Therapy, 2023 Pacientes adultos com doenças hemorrágicas hereditárias apresentam uma alta prevalência de infecções pelos vírus da imunodeficiência adquirida humana (HIV), hepatite B (HBV) e hepatite C (HCV), devido exposição prévia a transfusões sanguíneas.
NM Foschi +8 more
doaj +1 more source
Education and training in adult metabolic medicine: Results of an international survey
JIMD Reports, Volume 49, Issue 1, Page 63-69, September 2019., 2019 Abstract Adult metabolic medicine (AMM) is an expanding medical subspecialty, due to the increasing number of adult patients with inherited metabolic diseases (IMD). However, a formal training and postgraduate education in this field is not available in the majority of countries.
Annalisa Sechi +6 more
wiley +1 more source