Works matching IS 17501172 AND DT 2024

Results: 457
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    VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2
    By:
    • Kafol, Jan;
    • Gnidovec Strazisar, Barbara;
    • Drole Torkar, Ana;
    • Homan, Matjaz;
    • Bertok, Sara;
    • Mlinaric, Matej;
    • Sikonja, Jaka;
    • Kovač, Jernej;
    • Perkovic Benedik, Mirjana;
    • Kersnik Levart, Tanja;
    • Zerjav Tansek, Mojca;
    • Praprotnik, Marina;
    • Battelino, Tadej;
    • Debeljak, Maruša;
    • Groselj, Urh
    Publication type:
    Article
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    PHARC syndrome: an overview.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03418-0
    By:
    • Harutyunyan, Lusine;
    • Callaerts, Patrick;
    • Vermeer, Sascha
    Publication type:
    Article
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    Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03507-0
    By:
    • Castiglioni, Silvia;
    • Pezzoli, Laura;
    • Pezzani, Lidia;
    • Lettieri, Antonella;
    • Di Fede, Elisabetta;
    • Cereda, Anna;
    • Ancona, Silvia;
    • Gallina, Andrea;
    • Colombo, Elisa Adele;
    • Parodi, Chiara;
    • Grazioli, Paolo;
    • Taci, Esi;
    • Milani, Donatella;
    • Iascone, Maria;
    • Massa, Valentina;
    • Gervasini, Cristina
    Publication type:
    Article
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    Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03448-8
    By:
    • Kayani, Saima;
    • BordesEdgar, Veronica;
    • Lowden, Andrea;
    • Nettesheim, Emily R.;
    • Dahshi, Hamza;
    • Messahel, Souad;
    • Minassian, Berge A.;
    • Greenberg, Benjamin M.
    Publication type:
    Article
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    Shifting focus from ideality to reality: a qualitative study on how quality of life is defined by premanifest and manifest Huntington's disease gene expansion carriers.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03461-x
    By:
    • van Lonkhuizen, Pearl J. C.;
    • Heemskerk, Anne-Wil;
    • Slutter, Leanne;
    • van Duijn, Erik;
    • de Bot, Susanne T.;
    • Chavannes, Niels H.;
    • Meijer, Eline;
    • on behalf of the HEALTHE-RND consortium;
    • Vegt, Niko;
    • Chavannes, Niels;
    • Heemskerk, Anne- Wil;
    • Feleus, Stephanie;
    • Arendts, Esther C;
    • Putman, Amy;
    • Landwehrmeyer, G. Bernhard;
    • Mühlbäck, Alzbeta;
    • Frank, Wiebke;
    • Steck, Franziska;
    • Klempíř, Jiří;
    • Konvalinková, Romama
    Publication type:
    Article
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    Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03429-x
    By:
    • Rybalka, Emma;
    • Park, Hyung Jun;
    • Nalini, Atchayaram;
    • Baskar, Dipti;
    • Polavarapu, Kiran;
    • Durmus, Hacer;
    • Xia, Yang;
    • Wan, Linlin;
    • Shieh, Perry B.;
    • Moghadaszadeh, Behzad;
    • Beggs, Alan H.;
    • Mack, David L.;
    • Smith, Alec S. T.;
    • Hanna-Rose, Wendy;
    • Jinnah, Hyder A.;
    • Timpani, Cara A.;
    • Shen, Min;
    • Upadhyay, Jaymin;
    • Brault, Jeffrey J.;
    • Hall, Matthew D.
    Publication type:
    Article
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    Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03463-9
    By:
    • Giugliani, Roberto;
    • de Siqueira, Ana Cecília Menezes;
    • Santos, Emerson Santana;
    • Leão, Emília Katiane E. A.;
    • Carvalho, Gerson da Silva;
    • Santos, Mara Lúcia Schmitz Ferreira;
    • Raskin, Salmo;
    • Martins, Ana Maria
    Publication type:
    Article
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    Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03454-w
    By:
    • Doser, Karoline;
    • Jepsen, Jens Richardt Møllegaard;
    • Kenborg, Line;
    • Miskowiak, Kamilla Woznica;
    • Albieri, Vanna;
    • Dalton, Susanne Oksbjerg;
    • Krøyer, Anja;
    • Hove, Hanne;
    • Østergaard, John R.;
    • Johansen, Christoffer;
    • Sørensen, Sven Asger;
    • Mulvihill, John;
    • Falck Winther, Jeanette;
    • Bidstrup, Pernille Envold
    Publication type:
    Article
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    α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03419-z
    By:
    • Marins, Maryana;
    • Curiati, Marco Antonio;
    • Gomes, Caio Perez;
    • Martin, Renan Paulo;
    • Nicolicht-Amorim, Priscila;
    • Yamamoto, Joyce Umbelino da Silva;
    • D'Almeida, Vânia;
    • Martins, Ana Maria;
    • Pesquero, João Bosco
    Publication type:
    Article