Protocolos de Tratamento e Guidelines

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Recursos

Os seguintes protocolos de tratamento e guias de alimentação encontram-se disponíveis para consulta

Clinical practice recommendations for the diagnosis and management of X- linked hypophosphataemia
Fabry disease revisited: Management and treatment recommendations for adult patients
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts
Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel
Recommendations for the management of MPS IVA: systematic eviden
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Consensus clinical management guidelines for Niemann-Pick disease type C
Recommendations for the detection and diagnosis of Niemann-Pick disease type C Dec 2017
Galactosémia Clássica - International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
PKU - Key European guidelines for the diagnosis and management of patients with phenylketonuria
CBS - Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
MTHFR e defeitos das cobalaminas - Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Homocistinúrias e defeito da metilação - Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
Acidúria glutárica tipo I - Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Consenso para o tratamento nutricional de Fenilcetonúria
Consenso para o tratamento nutricional da Leucinose
Consenso para o tratamento nutricional da acidúria glutárica tipo I
Consenso para o tratamento nutricional das acidúrias isovalérica, propiónica e metilmalónica
Consenso para o tratamento nutricional das Doenças do Ciclo da Ureia
Guia nutricional para doentes de Gaucher
Guia nutricional para doentes com Niemann Pick tipo C

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