Search Results - "Niemann–Pick disease"

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  1. 41
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    Screening for Sphingolipid-Storage Diseases by J Gordon Millichap

    Published 1999
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  2. 42
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    Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients by Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova

    Published 2019
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  3. 43
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    PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND by Valeriu Popescu

    Published 2009
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  4. 44
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    NPD TYPE C - WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS by L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan

    Published 2011
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  5. 45
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    NPD TYPE C - WAY TO THE EFFECTIVE THERAPY THROUGH TIMELY DIAGNOSIS by L.S. Namazova-Baranova, L.S. Vysotskaya, A.M. Mamed"yarov, T.V. Margieva, N.D. Vashakmadze, A.K. Gevorkyan

    Published 2011
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  6. 46
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    Adeno-associated virus vector-based gene therapies for pediatric diseases by Kazuhiro Muramatsu, Shin-ichi Muramatsu

    Published 2023
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  7. 47
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    Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective by Nur Arslan, Mahmut Coker, Gulden Fatma Gokcay, Ertugrul Kiykim, Halise Neslihan Onenli Mungan, Fatih Ezgu

    Published 2023
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  8. 48
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    Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol by Genest Jacques, Engert James C, Ruel Isabelle L, Dastani Zari, Marcil Michel

    Published 2007
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  9. 49
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    Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report by Maurizio Romagnuolo, Chiara Moltrasio, Serena Gasperini, Angelo Valerio Marzano, Stefano Cambiaghi

    Published 2023
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  10. 50
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    Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience by Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker

    Published 2018
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  11. 51
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    Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C by Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti

    Published 2024
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  12. 52
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    The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical... by Ronit Shiri-Sverdlov, Inês Magro dos Reis, Yvonne Oligschlaeger, Tim Hendrikx, Dennis M. Meesters, Annick Vanclooster, Nele Vanhoutvin, Ger H. Koek, Marit Westerterp, Christoph J. Binder, David Cassiman, Tom Houben

    Published 2021
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  13. 53
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    Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments by Veronica Antipova, Veronica Antipova, Diana Heimes, Diana Heimes, Katharina Seidel, Katharina Seidel, Jennifer Schulz, Oliver Schmitt, Oliver Schmitt, Carsten Holzmann, Carsten Holzmann, Arndt Rolfs, Hans-Jürgen Bidmon, Hans-Jürgen Bidmon, Estibaliz González de San Román Martín, Estibaliz González de San Román Martín, Pitter F. Huesgen, Pitter F. Huesgen, Katrin Amunts, Katrin Amunts, Jonas Keiler, Niels Hammer, Niels Hammer, Niels Hammer, Martin Witt, Martin Witt, Martin Witt, Andreas Wree, Andreas Wree

    Published 2024
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  14. 54
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    Etiologies of neonatal cholestasis at a tertiary hospital in Bangladesh by Md. Benzamin, Mukesh Khadga, Fahmida Begum, Md. Rukunuzzaman, Md. Wahiduzzaman Mazumder, Khan Nahid Lamia, Md. Saidul Islam, AZM Raihanur Rahman, ASM Bazlul Karim

    Published 2020
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  15. 55
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    The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases by Costagliola G, De Marco E, Massei F, Roberti G, Catena F, Casazza G, Consolini R

    Published 2024
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  16. 56
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    Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry by Ruotong Li, Liping Tian, Qing Gao, Yuanfang Guo, Gaijie Li, Yulin Li, Meng Sun, Yan Yan, Qing Li, Wenying Nie, Hui Zou

    Published 2022
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  17. 57
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    A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy by Li Wang, Jingmin Sun, Xiaoyan Xu, Longxiang Tao, De Wu, Ying Zhang

    Published 2020
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