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1 . Academic Journal
Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders
저자
by
Ulrike Mütze
;
Alina Ottenberger
;
Florian Gleich
;
Esther M. Maier
;
Martin Lindner
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
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7 . Academic Journal
Tuberöse-Sklerose-Komplex
저자
by
Glutig, Katja
;
Husain, Ralf
;
Renz, Diane
;
John-Kroegel, Ulrike
;
Mentzel, Hans-Joachim
.
소스
Die Radiologie: Zeitschrift für diagnostische und interventionelle Radiologie, Radioonkologie, Nuklearmedizin
. 62(12):1058-1066
Web of Science
Find it @ DONGA
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7 . Academic Journal
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
저자
by
Astrid Pechmann
;
Max Behrens
;
Katharina Dörnbrack
;
Adrian Tassoni
;
Franziska Wenzel
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
저자
by
Pechmann, Astrid
;
Behrens, Max
;
Dörnbrack, Katharina
;
Tassoni, Adrian
;
Wenzel, Franziska
, et al.
소스
Orphanet Journal of Rare Diseases
. 17(1)
Open Access (BioMed Central)
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7 . Academic Journal
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
저자
by
Schwartz, Oliver
;
Vill, Katharina
;
Pfaffenlehner, Michelle
;
Behrens, Max
;
Weiß, Claudia
, et al.
소스
JAMA Pediatrics; Jun2024, Vol. 178 Issue 6, p540-547, 8p
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7 . Academic Journal
A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome
저자
by
Koziolek, Michael
;
Bramlage, Carsten Paul
;
Weber, Frauke
;
Albrecht-Nock, Tanja
;
Sonntag, Joseph
, et al.
소스
In
Kidney International
June 2020 97(6):1275-1286
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7 . Academic Journal
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
저자
by
Sarah Isabel Krieg
;
Ingeborg Krägeloh-Mann
;
Samuel Groeschel
;
Stefanie Beck-Wödl
;
Ralf A. Husain
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)
Open Access (BioMed Central)
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7 . Academic Journal
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
저자
by
Shai, Sonu
;
Perez-Becker, Ruy
;
Andres, Oliver
;
Bakhtiar, Shahrzad
;
Bauman, Ulrich
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 40(5):708-717
Web of Science
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7 . Academic Journal
Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101: Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.
저자
by
Ziegler, Andreas
;
Wilichowski, Ekkehard
;
Schara, Ulrike
;
Hahn, Andreas
;
Müller-Felber, Wolfgang
, et al.
소스
Der Nervenarzt
. 91(6):518-529
Web of Science
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7 . Academic Journal
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
저자
by
Husain, Ralf A
;
Jiao, Xinfu
;
Hennings, J Christopher
;
Giesecke, Jan
;
Palsule, Geeta
, et al.
소스
Brain: A Journal of Neurology
. Apr2024, Vol. 147 Issue 4, p1197-1205. 9p.
Full Text (OUP)
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