LINKS UTILI

 

EXTERNAL LINKS & ADDITIONAL INFORMATION 
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SOCIETA' SCIENTIFICHE INERENTI MALATTIE METABOLICHE EREDITARIE

ASGT American Society of Gene Therapy

British Inherited Metabolic Disease Group - UK

Child Neurology Society

DACH LIGA Homocystein

EACD European Academy of Childhoold Disability

EFNS European Federation Of Neurological Societies

EPNS European Paediatric Neurology Society

ESGT European Society of Gene Therapy

ESHG European Society of Human Genetics

ESPEN The European Society for Clinical Nutrition and Metabolism

International Society for Neonatal Screening

International Union of Biochemistry and Molecular Biology

Latin American Metabolic Information Network

Mitochondria Research Society

SENP Société Européenne du Neurologie Pédiatrique

SIMD Society fo Inherited Metabolic Disorders

SIP Società Italiana di Pediatria

SISMME Societa' Italiana per lo Studio delle Malattie Metaboliche Ereditarie

SIGU Società Italiana di Genetica Umana

SISN Società Italiana per gli Screening Neonatali

SSIEM Society for the Study of Inborn Errors of Metabolism

 

MALATTIE METABOLICHE EREDITARIE - ITALIA ED ESTERO INHERITED METABOLIC DISORDERS

AECOM Asociatión Espanola para el Studio de los errores congénitos del Metabolismo

Alliance Maladies Rares

AMDA Acid Maltase Deficency Association

A.M.Mi. Association contre les Maladies Mitochondiales

AMN Help All about Adrenomyeloneuropathy

AQMMR Association québécoise des maladies métabolique du Réseau

Association Francais des Syndromes d' Ehler Danlos

Association Francaise Lesh-Nyan Action

Association Francophone des Glycogénoses

BH4.org Tetrahydrobiopterin

CADASIL Foundation

CADASIL France

Centre Neuropédriatrique Robert-Debré Paris

CLIMB National Information and Advice Center for Metabolic Diseases

ELA Association Europeenne contre le Leucodistrophyies

EPI European Porphyria Iniziative

EPPOSI

E-RARE (ERA-Net for research programs on rare diseases)>

Erreurs innées du métabolisme

ESPEN European Society for Clinical Nutrition and Metabolism

E.S. PKU European Society for Phenilketonuria and Allied Disorders tratted as Phenilketonuria

EuroBioBank

Euromitocombat

European Galactosaemia Society EGS

European Study Group on Lysosomal Diseases

Eurordis

Eurordis Medicaliste

Fabbry uisse

Fatty Oxidation Disorders

Federatión Espanola de PKU Y OTM

Fenilchetonuria e dintorni

FOD SUPPORT.ORG Fatty Oxidation Disorders

Fondazione Ist. Neurologico C. Mondino IRCCS - Pavia

France Lafora

G6 PD DEFICIENCY FAVISM

Gaucher Disease

GMDI Genetic Metabolic Dietitians International

GOLD Global Organization of Lysosomal Diseases

GRUPPO ITALIANO PAZIENTI FABRY

Hunter Patients.com

ISMRD International Advocates for Glycoprotein Storage Diseases

Les Enfant du Jardin

Les Feux Follets

Lesh Nyhan

LYSOSOMAL DISEASES NEW ZEALAND

Maladies Rares info services

March of Dimes

MDDA Metabolic Dietary Disorders Association

MitoNet Germany

Mito Sites Mitochondrial Disease Network

MPSVI.com

MSUD Family Support Group

National Center for Research Resouces (NCRR)

National Gaucher Foundation

National MPS Society

NATIONAL PKU NEWS

National Tay-Sacks and Allied Diseases Association

Neuromuscolar Disease Center - Washington

Neuron on line

NKH - Nonketonic Hiperglycinemia

NSPKU National Society for Phenylketonuria

N.U.C.D.F. National Foundation Urea Cycle Disorders Foundation

OAA Organic Acidemia Association

OrphaXchange

OrphaSchool

PAF Propionic Acidemia Foundation

PAHdb Phenylalanine Hydroxylase Locus Knowledgbase

PGC Parents Galactosemic Children

PKU.COM US

PKUEXCHANGE  UK

Pediatric Neurotrasmitter Disease Association

Pompe Community

Pompe's Diseases Page

Rare Diseases Clinical Research Network

Rare Diseases Task Force

Redemeth

REDLAEM Red Latinoamericana Sobre Enfermedades Metabolicas Hereditarias

SAVE BABIES TROUGH SCREENING FOUNDATION, INC

SFEIM Société Française pour l'étude des Erreurs Innées du Metabolism

Telethon

The Children's Mitochondrial Disease Network - UK

TREAT-NMD NEUROMUSCOLAR NETWORK

Tyrosinemia

UMDF United Mitohondrial Disease Foundation

UNIAMO F.I.M.R. Onlus

United Lukodistrophy Foundation

University of Minnesota PKU Programme

Urea Cycle Disorders

Urea Cycle Disorders Consortium

U.S. Food & Drug Administration - Office of Orphan Products Development

Vaincre les Maladies Lysosomales

Wilson's disease Association International

 

ENTI E ISTITUZIONI - INSTITUTION

CENTRO NAZIONALE MALATTIE RARE ISS

Distretti Sanitari CARD

ISS Istituto Superiore di Sanità

Ministero della Salute - Malattie Rare

Office of Rare Diseases - National Institutes of Health

Ricerca Italiana

 

BANCHE DATI

Ambulatorio.com - SIMMGePed

ASSOCIAZIONE RETE MALATTIE RARE

BIGG Database

BioBase Biological Database

BioMiner

Brenda

Ciberer Centro de Investigación Biomédica en Red de Enfermedades Raras

Clinigen

Compilation of mammalian mitochondrial tRNA genes

Database Metagene On Line

dbGaP Genotype and Phenotype

EMBL European Molecular Biology Laboratory

E-rare

EuroBioBank

Eurocat

EuroGenTest

Euroglycanet Congenital Disorders of Glycosylation

ExPASy Proteomics Server

Genatlas

GenBank

Genecards

Gene Tests

Genetic Alliance

Genetic and Rare Condition Site

Genetics Home Reference

Geneweb

GOBASE - The Organelle Genome Database

Human Gene Mutations Database

Human Genome Database

Mammalian Mitochondrial tRNA genes

Metagene

MitEuro

Mitochondrial Proteome

Mito Data

Mitomap A Human Mitochondrial Genome Database

National Human Stem Cell Resource

NCBI National Center or Biothecnology Information

Neuromuscolar Disease Center

Nijmegen Center for Mitochondrial Disorders

NORD National Organisation for Rare Disorders

Nutritional and Metabolic Diseases

Office of Rare Diseases

OMIM

OMIM - Online Mendelian Inheritance in Man

Orpha.net

PAHdb Phenylalanine Hydroxylase Locus Knowledgesbase

PathAligner

Pathway Hunter Tool

Patikaweb

PhosphoMotif Finder - Human Proteine Reference Database

Ramedis/MD/Cave

Rare Diseases Clinical Research Network

RCSB PDB PROTEINE DATA ANK

UCSC Genome Browser Home

UNI-PROT

X-linked Adrenoleukodystrophy database

 

SCREENING, DIAGNOSI, CELLULE STAMINALI

Case Center of Inherited Disorders of Energy Metabolism

EDDNAL European Directory of DNA Diagnostic Laboratories

ERNDIM

HGVS Human Genome Variation Society

Met Bio Net Metabolic Biochemistry Network - UK

China Stem Cell News

 

CASE FARMACEUTICHE

ACTELION

AMICUS THERAPEUTICS

APROTEN

BIOMARIN PHARMACEUTICAL INC.

DIETETIC METABOLIC FOOD

EDISON PHARMACEUTICAL, INC. >

FIRST PLAY DIETARY FOODS

GENZYME

HAMMERMUHLE

INOTECH BIOTECHNOLOGIES LTD

LABORATORIES DHN - TARANIS

METAX

MILUPA METABOLICS

ORPHAN EUROPE

PK FOODS

PREKULAB

PROTALIX BIOTHERAPEUTICS

SANAVI

SCHIRCKS LABORATORIES

SERONO

SHIRE

SHS INTERNATIONAL-NUTRICIA

SWEDISH ORPHAN INTERNATIONAL

VITAFLO

 

FARMACI MALATTIE RARE

AIFA Agenzia Italiana per il Farmaco

EMEA European Medicines Agency

EUDRAPHARM

EUORPHAN

FARMACI-LINE

INFORMAZIONI SUI FARMACI

ISS FARMACI ORFANI

NEPHIRD

PHARMACOS

 

VARI

ACTIVE CITIZENSHIP NETWORK

AIDWEB

ANFFAS Associazione Nazionale Famiglie con Disabilità Intellettiva e/o Relazionale

ASPHI

BIOMEDIT

CERCASALUTE

CITTADINANZATTIVA CNAMC

DISABILIFREE

Disabilità intellettive - Ritardo mentale

DIVERSAMENTE ABILI

ENTRI SOLO SE SORRIDI

HANDIMPRESA Lega per l'emancipazione degli handicappati

HANDIPATICO

INFORMADIVERSABILE

OLTRE LE BARRIERE

PRODIGIO ONLUS

PROGETTO MIELINA

SUPERABILE Il portale nel mondo della disabilità

 

FORUM

Les forum des maladies orphelines et maladies rares

 

TRANSLATION PROGRAMS

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