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ISSN: 2640-7876

Global Journal of Rare Diseases

    Volume - 7 (3)
    mendeley

    Communicative and pragmatic skills: down syndrome vs williams syndrome

    DOI Logo 10.17352/2640-7876.000034

    Published On: October 18, 2022 | Pages: 011 - 016

    Author(s): Esther Moraleda-Sepúlveda*, Patricia López-Resa, Noelia Pulido-García, Paula López-Peces, Noelia Santos-Muriel and Gabriela Gutierrez-Arce

    ORCID Logo  0000-0001-5486-9455

    Down Syndrome (DS, hereinafter) is a chromosomal alteration produced by changes in the DNA sequence of chromosome 21, in addition to being the main cause of intellectual disability in the world [1]. According to the World Health Organization [2], DS has a worldwide prevalence of 1 in every 1,000 live births, but these figures vary due to different factors such as pren ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Shy-Dragger Syndrome – An underdiagnosed sad reality?

    DOI Logo 10.17352/2640-7876.000033

    Published On: August 29, 2022 | Pages: 008 - 010

    Author(s): Vasco Pinto Neves*, Maria Pacheco, Maria Inês Silva Gonçalve, Joao Rodrigues, Inês Salvado, Jessica Fidalgo and Pedro Daniel Carneiro Ventura
    Multiple System Atrophy (MSA) regards a group of neurodegenerative diseases sharing the same physiopathology. It is a rare group of diseases and often represents a diagnostic challenge for clinicians. Mild symptoms are present at the onset of the disease and are often neglected by patients. The case report describes a 62-year-old female with multiple episodes of synco ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    mendeley

    Erythromelalgia: Definition, clinical contexts, differential diagnosis, and therapy. Single case and literature update

    DOI Logo 10.17352/2640-7876.000032

    Published On: April 12, 2022 | Pages: 001 - 007

    Author(s): Giulio Perrotta* and Emanuele Guerrieri
    Clinical publications on this morbid condition report as many as 16 different Nav1 7 channel substitutions. They also report more than 40 pharmacological treatments, including agents with sodium channel blocking but nonspecific activity (mexiletine, lidocaine, carbamazepine), anti-neuropathic drugs (gabapentinoids and antidepressants), antidepressant drugs with effica ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat
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    Indexing/Archiving

    Editor-in-Chief

    Edoardo Raposio
    University of Parma, Italy
    International Journal of Dermatology and Clinical Research
    Peter Lloyd Nara
    Private Compnay- Biological Mimetics, Inc., USA
    Annals of Antivirals and Antiretrovirals
    Dong Zhao
    China University of Political Science and Law, China
    Forensic Science Today
    Marco Matteo Ciccone
    University of Bari , Italy
    Archives of Organ Transplantation
    Jose Manuel Ramia-Angel
    Guadalajara University Hospital , Spain
    Journal of Surgery and Surgical Research
    Giampiero Capobianco
    Sassari University, Italy
    Archive of Urological Research
    Thomas F. George
    University of Missouri - St. Louis, USA
    Open Journal of Analytical and Bioanalytical Chemistry
    Lianbo Yu
    Ohio State University, USA
    Open Journal of Bioinformatics and Biostatistics
    Massimiliano VISOCCHI 
    Catholic University of Rome, Italy
    Open Journal of Orthopedics and Rheumatology
    Domenico Antonio Restivo
    Nuovo Garibaldi Hospital, Italy
    Journal of Neurology, Neurological Science and Disorders

    NIH Funded Articles

    How Anterior Cruciate Ligament Injury was averted during Knee Collapse in a NBA Point Guard Ethnic Differences in Abstinence Self-Efficacy among Recovering Individuals Validity of Ratings of Perceived Exertion in Patients with Type 2 Diabetes Endothelial Progenitor Cells in Breast Cancer Variation among gari samples of some yellow cassava (Manihot esculenta Crantz) varieties for change in color during storage Buprenorphine Maintenance for Opioid Dependence in Public Sector Healthcare: Benefits and Barriers Significance of Cancer Stem Cells in Anti-Cancer Therapies Diabetic Retinopathy: Focus on Minority Populations Hepatitis B Vaccination Rate in Patients with Diabetes: Assessment of Racial and Socioeconomic Disparity Neural Response During a Mechanically Assisted Spinal Manipulation in an Animal Model: A Pilot Study

    Research Articles

    Clinical profile of Dengue infection at a center in north Karnataka, India
    May 31, 2019    Oral health status and treatment needs of soft drink factory workers of Bareilly City: A cross-sectional study
    September 21, 2022    The phenological stages of forestry species under the impact of climate change• Early data
    November 15, 2022

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