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1 . Academic Journal
Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
저자
by
Stefanie N. Hayer
;
Vidiyaah Santhanakumaran
;
Judith Böhringer
;
Ludger Schöls
.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1807-1812 (2022)
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6 . Academic Journal
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics
저자
by
Lucia Laugwitz
;
Laimdota Zizmare
;
Vidiyaah Santhanakumaran
;
Claire Cannet
;
Judith Böhringer
, et al.
소스
JIMD Reports, Vol 63, Iss 2, Pp 168-180 (2022)
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7 . Academic Journal
Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
저자
by
Stefanie Beck‐Wödl
;
Christiane Kehrer
;
Klaus Harzer
;
Tobias B. Haack
;
Friederike Bürger
, et al.
소스
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
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7 . Academic Journal
Phenotypic variation between siblings with Metachromatic Leukodystrophy
저자
by
Saskia Elgün
;
Jakob Waibel
;
Christiane Kehrer
;
Diane van Rappard
;
Judith Böhringer
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Generation of two iPSC lines derived from two unrelated patients with Gaucher disease
저자
by
Maike Nagel
;
Jennifer Reichbauer
;
Judith Böhringer
;
Yvonne Schelling
;
Inge Krägeloh-Mann
, et al.
소스
Stem Cell Research, Vol 35, Iss , Pp - (2019)
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7 . Academic Journal
Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses
저자
by
Sebastian Strobel
;
Naomi Hesse
;
Vidiyaah Santhanakumaran
;
Samuel Groeschel
;
Gernot Bruchelt
, et al.
소스
Cells, Vol 9, Iss 12, p 2553 (2020)
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7 .
Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy
저자
by
Karin Melanie Cabanillas Stanchi
;
Judith Böhringer
;
Manuel Strölin
;
Samuel Groeschel
;
Katrin Lenglinger
, et al.
소스
Stem cells and development
. 31(7-8)
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7 .
The Mutation Matters:
CSF
Profiles of
GCase
, Sphingolipids, α‐Synuclein in
PD GBA
저자
by
Christian Deuschle
;
Inga Liepelt-Scarfone
;
Gerrit Machetanz
;
Michelle M. Mielke
;
Ingolf Lachmann
, et al.
소스
Movement disorders 36(5), 1216-1228 (2021). doi:10.1002/mds.28472
Full Text (Wiley)
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7 .
A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy
저자
by
Justin S. Antony
;
Alberto Daniel-Moreno
;
Andrés Lamsfus-Calle
;
Janani Raju
;
Merve Kaftancioglu
, et al.
소스
The CRISPR journal
. 5(1)
Scopus
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7 .
Challenges in Biochemical Diagnosis of Krabbe and Gaucher Disease
저자
by
S. Beck-Wödl
;
L. Laugwitz
;
Samuel Groeschel
;
V. Santhanakumaran
;
G. Merkel
, et al.
소스
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics
.
Scopus
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