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Showing 1-20 of 20 results

  1. Ichthyosis

    The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective...

    Carlos Gutiérrez-Cerrajero, Eli Sprecher, ... Rogelio González-Sarmiento in Nature Reviews Disease Primers
    Article 19 January 2023

  2. Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien

    Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the...

    D. Emmert, T. Rasche, ... M. Mücke in Der Nervenarzt
    Article 19 September 2022

  3. Seltene Erkrankungen in der Differenzialdiagnose bei Myalgien

    Myalgia describes pain in the skeletal muscles. According to the current German clinical guidelines from 2020 (AWMF register number: 030/051), the...

    D. Emmert, T. Rasche, ... M. Mücke in Der Schmerz
    Article 29 April 2022

  4. A framework for the evaluation of patients with congenital facial weakness

    There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this...

    Bryn D. Webb, Irini Manoli, ... Ethylin W. Jabs in Orphanet Journal of Rare Diseases
    Article Open access 07 April 2021

  5. Introduction to phacomatoses (neurocutaneous disorders) in childhood

    The Dutch ophthalmologist, Jan van der Hoeve , first introduced the terms phakoma / phakomata (from the old Greek word “ϕαχοσ” = lentil, spot,...

    Martino Ruggieri, Agata Polizzi, ... Concezio Di Rocco in Child's Nervous System
    Article 17 September 2020

  6. A single-center study to evaluate the efficacy of a fetal urine peptide signature predicting postnatal renal outcome in fetuses with posterior urethral valves

    Background

    Posterior urethral valves (PUVs) account for 17% of pediatric renal failure. The management of pregnancies involving fetuses with PUV is...

    Bénédicte Buffin-Meyer, Marcin Tkaczyk, ... Joost P. Schanstra in Pediatric Nephrology
    Article 07 November 2019

  13. Abstracts

    in medizinische genetik
    Article 25 January 2019

  15. Rare diseases and orphan drugs: Latvian story

    Background

    Ten years have passed since Latvia became a Member State of the EU in 2004. As a result European regulations, including those related to...

    Konstantins Logviss, Dainis Krievins, Santa Purvina in Orphanet Journal of Rare Diseases
    Article Open access 18 September 2014

  18. Inferior Frontal Cortex Modulation with an Acute Dose of Heroin During Cognitive Control

    Impairments in inhibitory control and in stimulus-driven attention are hallmarks of drug addiction and are associated with decreased activation in...

    André Schmidt, Marc Walter, ... Stefan Borgwardt in Neuropsychopharmacology
    Article Open access 15 May 2013
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