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1 . Academic Journal
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
저자
by
Rafael Tesorero
;
Joachim Janda
;
Friederike Hörster
;
Patrik Feyh
;
Ulrike Mütze
, et al.
소스
PLoS ONE, Vol 18, Iss 3, p e0283024 (2023)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
저자
by
Elena Schnabel
;
Stefan Kölker
;
Florian Gleich
;
Patrik Feyh
;
Friederike Hörster
, et al.
소스
Nutrients, Vol 15, Iss 15, p 3355 (2023)
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7 . Academic Journal
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study
저자
by
Alexander Kovacevic
;
Sven F. Garbade
;
Friederike Hörster
;
Georg F. Hoffmann
;
Matthias Gorenflo
, et al.
소스
Children, Vol 10, Iss 1, p 113 (2023)
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Scopus
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7 .
Detection of early cardiac disease manifestation in propionic acidemia – Results of a monocentric cross-sectional study
저자
by
Alexander Kovacevic
;
Sven F. Garbade
;
Friederike Hörster
;
Georg F. Hoffmann
;
Matthias Gorenflo
, et al.
소스
Molecular Genetics and Metabolism
. 137:349-358
Web of Science
Scopus
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7 .
Renal outcome and plasma methylmalonic acid levels after isolated or combined liver or kidney transplantation in patients with methylmalonic acidemia: A multicenter analysis
저자
by
Luca Dello Strologo
;
Marco Spada
;
Carlo Dionisi Vici
;
Marta Ciofi Degli Atti
;
Michelle Rheault
, et al.
소스
Molecular Genetics and Metabolism
. 137:265-272
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7 .
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
저자
by
Carsten Speckmann
;
Uta Nennstiel
;
Manfred Hönig
;
Michael H. Albert
;
Sujal Ghosh
, et al.
소스
Journal of Clinical Immunology
.
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7 .
Metabolic Disorders Affecting the Kidney
저자
by
Aude Servais
;
Olivia Boyer
;
Myriam Dao
;
Friederike Hörster
.
소스
Pediatric Kidney Disease ISBN: 9783031116643
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6 .
Prospective Newborn Screening for SCID in Germany: A first analysis by the Pediatric Immunology Working Group (API)
저자
by
Carsten Speckmann
;
Uta Nennstiel
;
Manfred Hönig
;
Michael H. Albert
;
Sujal Ghosh
, et al.
소스
Open Access (OpenAIRE)
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7 .
'Clinical variant'-Galaktosämie: Andere Länder, andere Phänotypen …
저자
by
Sarah Catharina Grünert
;
Anke Schumann
;
Anton Härtling
;
Friederike Hörster
;
Ute Spiekerkoetter
, et al.
소스
Monatsschrift Kinderheilkunde
.
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Scopus
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7 .
Delineating the clinical spectrum of isolated methylmalonic acidurias:
cblA
and mut
저자
by
Sven F. Garbade
;
Matthias R. Baumgartner
;
Additional Contributors from E-Imd
;
Friederike Hörster
;
Tanja Plessl
, et al.
소스
Journal of Inherited Metabolic Disease
. 44:193-214
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