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1 . Academic Journal
Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data
저자
by
Lara M. Marten
;
Ralph Krätzner
;
Gajja S. Salomons
;
Matilde Fernandez Ojeda
;
Peter Dechent
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101053- (2024)
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7 . Academic Journal
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
저자
by
Lars Schlotawa
;
Karolina Tyka
;
Matthias Kettwig
;
Rebecca C Ahrens‐Nicklas
;
Matthias Baud
, et al.
소스
EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)
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7 . Academic Journal
Deep breathing couples CSF and venous flow dynamics
저자
by
Jost M. Kollmeier
;
Lukas Gürbüz-Reiss
;
Prativa Sahoo
;
Simon Badura
;
Ben Ellebracht
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
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7 . Academic Journal
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome
저자
by
Keit Men Wong
;
Eike Wegener
;
Alireza Baradaran-Heravi
;
Brenda Huppke
;
Jutta Gärtner
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11665 (2023)
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7 . Academic Journal
Interferon-driven brain phenotype in a mouse model of RNaseT2 deficient leukoencephalopathy
저자
by
Matthias Kettwig
;
Katharina Ternka
;
Kristin Wendland
;
Dennis Manfred Krüger
;
Silvia Zampar
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
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7 . Academic Journal
Improving pediatric multiple sclerosis interventional phase III study design: a meta-analysis
저자
by
Jennifer S. Graves
;
Marius Thomas
;
Jun Li
;
Anuja R. Shah
;
Alexandra Goodyear
, et al.
소스
Therapeutic Advances in Neurological Disorders, Vol 15 (2022)
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7 . Academic Journal
Follow-Up of a Case of Dopamine-Mediated Yawning-Fatigue-Syndrome Responsive to Opioids, Successful Desensitization via Graded Activity Treatment
저자
by
Payam Dibaj
;
Dagmar Seeger
;
Jutta Gärtner
;
Frank Petzke
.
소스
Neurology International, Vol 13, Iss 1, Pp 79-84 (2021)
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6 . Academic Journal
Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review
저자
by
Michael P. Schittkowski
;
Sabine Naxer
;
Mohamed Elabbasy
;
Leonie Herholz
;
Vivian Breitling
, et al.
소스
Children, Vol 10, Iss 3, p 595 (2023)
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7 . Academic Journal
Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia
저자
by
Chris Mühlhausen
;
Lisa Henneke
;
Lars Schlotawa
;
Daniel Behme
;
Marianne Grüneberg
, et al.
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JIMD Reports, Vol 55, Iss 1, Pp 38-43 (2020)
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7 . Academic Journal
Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
저자
by
Kalliopi Sofou
;
Kolja Meier
;
Leslie E Sanderson
;
Debora Kaminski
;
Laia Montoliu‐Gaya
, et al.
소스
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
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