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EuroGenTest

EuroGentest is a European initiative that is dealing with all aspects of genetic testing - Quality Management, Public Health, New Technologies and Education.

DACH-Liga-Homocystein

The society is an interdisciplinary association of established scientists from the DACH countries (Germany, Austria and Switzerland) who are involved in research in the field of homocysteine, relevant vitamins and associated illnesses in the wider sense.

Metabolic Biochemistry Network (METBIONET) UK

The Network is a group of specialist laboratories providing tests for the diagnosis and management of patients with Inherited Metabolic Disorders across the United Kingdom.

Barth Syndrome Trust

The Barth Syndrome Trust is the leading charity for Barth syndrome in the UK and Europe and is also affiliated to the US Barth Syndrome Foundation.

Barth Syndrome Foundation

Dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome - a sometimes fatal, oftentimes debilitating genetic disease.

Orphanet - European Database of Rare Diseases

Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet's aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

Society for the Study of Inborn Errors of Metabolism (SSIEM)

The aim of the Society is to foster the study of inherited metabolic disorders and related topics. The Society, founded in 1963, exists to promote exchange of ideas between professional workers in different disciplines who are interested in inherited metabolic disease.

Clinical Pathology Accreditation (CPA) UK

CPA provides a means to accredit Clinical Pathology Services and External Quality Assessment Schemes (EQA)

The Association for Clinical Biochemistry and Laboratory Medicine (ACB)

The Association for Clinical Biochemistry (ACB) was founded in 1953, and is one of the oldest such Associations in the world. Based in the United Kingdom, it is a professional body dedicated to the practice and promotion of clinical science.

PubMed

PubMed comprises more than 21 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Expasy Proteomics Server

ExPASy is the new SIB Bioinformatics Resource Portal which provides access to scientific databases and software tools in different areas of life sciences including proteomics, genomics, phylogeny, systems biology, population genetics, transcriptomics etc.

Online Mendelian Inheritance in Man (OMIM)

Welcome to OMIM®, Online Mendelian Inheritance in Man®. OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes.

Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS)

The working group for paediatric metabolic disturbances (APS) represents a sub-specialty in child medicine; as such it aims at a close co-operation with national societies for child medicine and with other scientific societies and working groups.

Centers for Disease Control and Prevention (CDC)

The CDC is one of the major operating components of the Department of Health and Human Services

The Human Gene Mutation Database (HGMD)

The Human Gene Mutation Database (HGMD) represents an attempt to collate known (published) gene lesions responsible for human inherited disease.

Human Genetics Quality Network (HGQN)

HGQN mainly appeals to persons in medical profession and to natural scientists in the fields of human genetics, pediatrics, gynaecology, otorhinolaryngology, haematology, ophthalmology, neurology.

Swiss Society of Clinical Chemistry (SSCC)

Metab-L

Metab-l is meant to provide an informal and friendly, professional forum for meeting each other, for getting acquainted, for exchanging information and addresses, for planning projects, for discussing clinical cases, problems, solutions, ideas, concepts.

Italian Society for the Study of Inborn Metabolic Diseases (SISMME)

The Society promotes and supports the research, the scientific cooperation, the organization and the quality of the diagnostics and health and medical care in the fields of Inborn Metabolic Diseases and Newborn Screening.

European Molecular Quality Network (EMQN)

We are a not-for-profit organisation promoting quality in molecular genetic testing by establishing, harmonising and disseminating best practice. We provide external quality assessment (EQA) to labs worldwide in collaboration with the EuroGentest Network and the CF Network.

Cytogenetics European Quality Assessment (CEQA)

CEQA (Cytogenetic European Quality Assessment) was set up in 2005 by a Forum of European EQA Providers as part of the Eurogentest Network of Excellence in Genetics. Part of the Eurogentest remit was to address the lack of a pan European EQA Scheme and to harmonise existing National schemes.

Clinical Chemistry Journal

Cystinosis

Cystinosis is a rare genetic disease affecting both children and adults. it is usually diagnosed in early infancy. It is estimated that 2,000 individuals worldwide have cystinosis, but exact numbers are difficult to obtain since this disease often goes undiagnosed.

Standards for laboratory investigation of inborn errors of metabolism

Expanded Newborn Screening

A one year pilot looking at the effectiveness of the expansion newborn blood spot screening in the UK to screen for an additional five rare inherited metabolic conditions (GA1, HCU, IVA, LCHADD and MSUD).

Human Metabolome Database

The Human Metabolome Database (HMDB) is a freely available electronic database containing detailed information about small molecule metabolites found in the human body. It is intended to be used for applications in metabolomics, clinical chemistry, biomarker discovery and general education.