APCDG - Congenital Disorders of Glycosylation
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      • Follow up - World Conference on CDG 17
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Resources


The Portuguese Association for CDG, generated many resources in different languages in full collaboration with worldwide CDG families and professionals. In our blog we are continuously making available publications and related resources considered of major interest for CDG Community. Please visit it for further information.  

VERY IMPORTANT, PLEASE READ IF YOU USE OUR RESOURCES OR DOCUMENTS:
All our work is publicly available to help the CDG community. Importantly, our resources are done by volunteers. If you use our resources, please refer to http://www.apcdg.com/resources.html as the source of information. This helps us to ensure that families and professionals know the original source of information. Additionally, you contribute to ensure that updated information reaches the entire community . Also, please note that these are educational resources (we do not authorize their use for other purposes). THANKS!

Making scientific discovery "patient-friendly":
Short Summaries of CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN)
A Partnerhip with Guía Metabólica and Dr Maria Antonia Vilaseca
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The aim of this joint project is to make  the findings of CDG & Allies-PPAIN's research projects available to the CDG Community and society in general in a speedy and accessible manner.

If you are interested in collaborating in this project by translating the summaries to your native tongue, please contact sindromecsg@gmail.com. 

Spanish Version
Find all the summaries in Spanish HERE/ Todos los resúmenes en Español AQUÍ

English Version
 Introduction: Explaining the essentials - Cogenital Disorders of Glycosylation (CDG)
lay_language_summaries_introduction_cdg_allies_papers.pdf
File Size: 573 kb
File Type: pdf
Download File

Immune system
lay_language_summaries_immune_system_cdg_allies_papers.pdf
File Size: 474 kb
File Type: pdf
Download File

Liver
lay_language_summaries_liver_cdg_allies_papers.pdf
File Size: 519 kb
File Type: pdf
Download File

Heart
lay_language_summaries_heart_cdg_allies_papers.pdf
File Size: 446 kb
File Type: pdf
Download File

Patient-Centricity
lay_language_summaries_patientcentricity_cdg_allies_papers.pdf
File Size: 440 kb
File Type: pdf
Download File

SOON TO FOLLOW
Eyes & CDG therapies

Portuguese Version
Introdução: Explicando o essencial - Doenças Congénitas da Glicosilação (CDG)
Sistema imunitário
resumos_em_linguagem_leiga_introdução_cdg_allies_papers.pdf
File Size: 465 kb
File Type: pdf
Download File

Mais resumos em português ficarão brevemente disponíveis!

Guía Metabólica em Português
Guía Metabólica: Several relevant patient-friendly documents are not available in Portuguese. Our sincere gratitude to all collaborators, 40 in total, who dedicated time to make these relevant resources available for the rare disease community. 40 documents about various important subjects for patient and families affected by rare diseases, ranging from diet and feeding advice to research, genetics and biology concepts to medical issues.
  • ​Tipos de Mutações
  • Opções Terapêuticas Atuais: I/V
  • Opções Terapêuticas Atuais IIA/V: Terapia Génica
  • Opções Terapêuticas Atuais IIB/V: Terapia Antisense 
  • O que é uma convulsão?
  • Os cuidados do cuidador
  • Sonda nasogástrica nas doenças metabólicas
  • A disfagia e o doente neurológico
  • Adaptação ao diagnóstico e realidade de uma incapacidade ou condição especial
  • O consentimento informado, um processo importante para doentes e para profissionais de saúd
  • Epilepsia nos ECM (Erros Congénitos do Metabolismo)
  • Do gene à proteína
  • Gestão alimentar da disfagia
  • Recomendações para a disfagia
  • Receitas elaboradas para doentes com disfagia
  • A criptorquidia, o problema genital mais comum nas crianças
  • Dieta cetogénica, aspetos clínicos e aplicação dietética
  • Registo de doentes, uma ferramenta básica para a investigação
  • O autismo e as doenças metabólicas
  • Os cuidadores de crianças com defeitos congénitos do metabolismo (dcm): cuidar de si para poder cuidar
  • A crianças com defeitos congénitos do metabolismo (dcm) também necessitam de limites?
  • Os estilos educativos dos pais. Que podemos dizer acerca da sobreproteção de crianças afetadas por doenças metabólicas?
  • Tratamento de doenças metabólicas hereditárias com chaperones farmacológicos
  • Diretrizes para a nutrição no defeito congénito de glicosilação (CDG)
  • Complicações digestivas de crianças com CDG
  • "Como pais, é importante gerir as nossas emoções para transmitir segurança à criança”
  • Osteopenia nas doenças metabólicas hereditárias
  • Diarreia aguda nas doenças metabólicas
  • Importância dos elementos vestigiais nas doenças hereditárias do metabolismo
  • Doenças metabólicas com distúrbios motores
  • Epidemiologia das doenças hereditárias do metabolismo (DHM)
  • Higiene oral nas doenças metabólicas
  • Investigação básica e aplicada na área dos erros hereditários de metabolismo
  • Normas de fotoproteçao
  • Registo nacional de doenças raras: um ato simples da responsabilidade de todos
  • Stress oxidativo nos erros hereditários do metabolismo (EHM)
  • Soluções para melhorar a acessibilidade nos parques infantis
  • As vacinas e os erros congénitos do metabolismo
  • A importância da alimentação saudável

Other resources

If you'd like to have other resources about CDG diagnosis, management, awareness and about many other topics, visit HERE.

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  • About US
    • What we do
    • Who we help >
      • Research
  • Resources
    • Rare CDG
    • Publications
    • Guia Metabolica
    • CDG Facts
    • Task Force CDG Communication >
      • PMM2-CDG (CDG Ia)
      • PGM1-CDG (CDG It)
      • ALG6-CDG (CDG Ic)
  • EDUCATION
  • Awareness
    • Get involved World CDG Awareness Day 2019 >
      • Go Social World CDG Awareness Day 19
      • Spread World CDG Awareness Day 19
      • Plan An Event World CDG Awareness Day 19
      • Frame your CDG Awareness Campaign 19
      • Go green! Think CDG! ©Campaign 19
      • Volunteer World CDG Awareness Day 19
      • Press kit World CDG Awareness Day 19
    • Map of events for World CDG Awareness Day 2019
    • CrowdCDG
    • Awareness Day 2018
    • Awareness Day 2017
    • Awareness Day 2016
    • Rare Diseases
  • Community
    • Join Us - Membership
    • CDG Patient Groups
    • Empowerment
  • Events
    • 1st CDG Satellite Meeting
    • Speakers - World Conference on CDG 2019
    • Registrations - World Conference on CDG 2019
    • Poster submission - World Conference on CDG 2019
    • Follow up - World Conference on CDG 19
    • Volunteer Registration - World Conference on CDG 2019
    • Previous Edition World Conference on CDG 2017 >
      • Follow up - World Conference on CDG 17
      • Speakers - World Conference on CDG 17
  • DONATE
  • BLOG