meusix.tigem.it
Links — .: The MeuSIX Project :.
http://meusix.tigem.it/meusix-project/collaborations
AIMPS Italian Association of Mucopolysaccharidosis. Dutch Association Metabolic diseases - VKS. International Societies and Conferences. European Society of Gene and Cell Therapy. ASGCT (American Society of Gene and Cell Therapy). SSIEM (Society for the Study of Inborn Errors of Metabolism). SISMME (Societa' Italiana per lo Studio delle Malattie Metaboliche Ereditarie). SIMD (Society for Inherited Metabolic Disorders). AECOM (Asociación Española para el Estudio de los Errores Congénitos del Metabolismo.
lumos-pharma.com
Resources | Lumos Pharma
http://lumos-pharma.com/resources
NATIONAL INSTITUTES OF HEALTH. National Institutes of Health. Therapeutics for Rare and Neglected Diseases Program. Lumos Pharma: TRND Collaboration. National Organization for Rare Disorders (NORD). European Organization for Rare Diseases (EURORDIS). Society for the Study of Inborn Errors of Metabolism. Society for Inherited Metabolic Disorders. United Mitochondrial Disease Foundation. Association for Creatine Deficiencies Patient Registry. Click here to register now! CTD AND AUTISM ADVOCACY GROUPS.
nutricialearningcenter.com
Nutricia Learning Center
http://www.nutricialearningcenter.com/en/metabolics/clinician-resources
Log into your NLC account:. What are you looking for today? 160;The Nutricia Learning Center features tools and educational resources for Metabolic Healthcare Professionals. This resource has been developed for use by Healthcare Professionals. It includes recipes for mixing Monogen at multiple dilutions (from 20 to 30 calories per fluid ounce), as well as household measures. NEW Monogen with DHA. Approximate US household measurements available for the following products:. PKU Periflex Junior Plus. TYR An...
ommbidblog.com
Nicola Brunetti-Pierri |
http://ommbidblog.com/author/nicolab
Whole Exome Sequencing in Inborn errors of metabolism. May 30th, 2016. Filed under Exome sequencing. Part 06: DIAGNOSTIC APPROACHES. Autism-like behaviours in transgenic monkeys overexpressing MeCP2. March 30th, 2016. Filed under Part 28: NEUROGENETICS. Beta-mannosidase gene mutations in autosomal dominant nystagmus. December 26th, 2015. Filed under Part 16: LYSOSOMAL DISORDERS. A recent study in Genetics in Medicine aiming at the identification by whole-exome sequencing of genes involved in infantile ny...
emedicine.medscape.com
MELAS Syndrome: Background, Pathophysiology, Epidemiology
http://emedicine.medscape.com/article/946864-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Author: Fernando Scaglia, MD, FACMG; Chief Editor: Luis O Rohena, MD more. Updated: Nov 14, 2014. What would you like to print? Print the entire contents of. And strokelike episodes. Other features, such as seizures, diabetes mellitus. Hearing loss, cardiac disease, short stature. Gene at base pair (bp) 3243 (ie, 3243 A G mutation). However, other mitochondrial DNA (mtDNA) mutat...
oaanews.org
Informational Websites | OAA
http://www.oaanews.org/links_informational.htm
Donations are how we keep doing our work:. The Organic Acidemias: An Overview. National Coordinating Center for Genetic Service Collaboratives. Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis. National Institutes of Health (NIH). Carnitor (Medication for Organic Acidemias). Clinical Approach to Genetic Cardiomyopathy in Children. USDA Nutrient Database for Standard Reference. Society for Inherited Metabolic Disorders (SIMD). Society for the Study of Inborn Errors of Metabolism (SSIEM).
ommbidblog.com
Recurrent mutations in NF1 and RASopathy genes melanomas |
http://ommbidblog.com/2015/07/28/recurrent-mutations-in-nf1-and-rasopathy-genes-melanomas
Recurrent mutations in NF1 and RASopathy genes melanomas. July 28th, 2015. Filed under Part 04: CANCER. A whole-exome sequencing (WES) study on 213 melanomas found that NF1. Encoding a negative regulator of RAS mutated in Neurofibromatosis type 1, is the third most frequently mutated gene in melanoma, after BRAF. Mutations were present in 46% of melanomas expressing wild-type BRAF. Occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2.
emedicine.medscape.com
Metachromatic Leukodystrophy: Background, Pathophysiology, Epidemiology
http://emedicine.medscape.com/article/951840-overview
Medscape is available in 5 Language Editions – Choose your Edition here. Https:/ profreg.medscape.com/px/getpracticeprofile.do? Author: Alan K Ikeda, MD; Chief Editor: Luis O Rohena, MD more. Updated: Aug 21, 2014. What would you like to print? Print the entire contents of. Histologic examination of the tissues often reveals metachromatic granules. Central and peripheral myelination are abnormal, with a widespread loss of myelinated oligodendroglia in the CNS and segmental demyelination of peripheral...
