UB Paderborn / Katalog / Suche / in CDI

Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment, 2024-07, Vol.1064, Article 169426

2024

Link zum Volltext

Verfügbarkeit prüfen

High-frequency component in flash visual evoked potentials in type 3 Gaucher disease

Brain & development (Tokyo. 1979), 2020-01, Vol.42 (1), p.19-27

2020

Link zum Volltext

Verfügbarkeit prüfen

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Journal of the neurological sciences, 2018-05, Vol.388, p.4-6

2018

Link zum Volltext

Verfügbarkeit prüfen

Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3

Brain & development, 2022, Vol.44 (4), p.308-312

2022

Link zum Volltext

Verfügbarkeit prüfen

Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3

Brain & development (Tokyo. 1979), 2022-04, Vol.44 (4), p.308-312

2022

Link zum Volltext

Verfügbarkeit prüfen

Megalin is downregulated via LPS-TNF-α-ERK1/2 signaling pathway in proximal tubule cells

Biochemical and biophysical research communications, 2011-04, Vol.407 (1), p.108-112

2011

Link zum Volltext

Verfügbarkeit prüfen

Miglustat therapy in a case of early-infantile Niemann-Pick type C

Brain & development (Tokyo. 1979), 2017-11, Vol.39 (10), p.886-890

2017

Link zum Volltext

Verfügbarkeit prüfen

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease

Brain & development (Tokyo. 1979), 2023-10, Vol.45 (9), p.517-522

2023

Link zum Volltext

Verfügbarkeit prüfen

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease

Brain & development, 2023, Vol.45 (9), p.517-522

2023

Link zum Volltext

Verfügbarkeit prüfen

pH-responsive pharmacological chaperones for lysosomal disease

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S85-S86

2016

Link zum Volltext

Verfügbarkeit prüfen

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan

Molecular genetics and metabolism, 2021-07, Vol.133 (3), p.277-288

2021

Link zum Volltext

Verfügbarkeit prüfen

Qualitative analysis of patient characters, interviews on the burden of neuronopathic Gaucher disease in Japan

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107302, Article 107302

2023

Link zum Volltext

Verfügbarkeit prüfen

Quantitative computed tomography for enzyme replacement therapy in Pompe disease

Brain & development (Tokyo. 1979), 2012-11, Vol.34 (10), p.834-839

2012

Link zum Volltext

Verfügbarkeit prüfen

Sorafenib attenuates monocrotaline-induced sinusoidal obstruction syndrome in rats through suppression of JNK and MMP-9

Journal of hepatology, 2012-11, Vol.57 (5), p.1037-1043

2012

Link zum Volltext

Verfügbarkeit prüfen

Strict actions of the human wrist extensors: A study with an electrical neuromuscular stimulation method

Journal of electromyography and kinesiology, 2010-12, Vol.20 (6), p.1178-1185

2010

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 27

Suche als RSS-Feed

Aktive Filter

KollektionElsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(24)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(25)
Berichte
(2)

Sprache

Englisch
(27)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

Ingenta
(27)
Elsevier ScienceDirect Journals Complete
(27)
MEDLINE
(11)
IngentaConnect Journals
(8)
EZB Free E-Journals
(1)
WK Lippincott Williams & Wilkins–Connect here FIRST to enable access
(1)
Single Journals
(1)

2 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Assessing the impact on caregivers burden for patients with Gaucher disease in Japan

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

Chaperone therapy for neuronopathic Gaucher disease

A Cross-Sectional Analysis of Influential Factors On Health-Related Quality of Life in Long-Term Survivors After Hematopoietic Stem Cell Transplantation

Development and evaluation of Gaucher disease-specific patient reported outcome measurement in Japan

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C

Effect of levetiracetam in acute encephalitis with refractory, repetitive partial seizures during acute and chronic phase

Effect of urban vegetation on outdoor thermal environment: Field measurement at a scale model site

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

Elevated CSF glucosylsphingosine in neuronopathic Gaucher disease; relation to phenotype and therapeutic response with chaperone therapy

Evaluation of the X-ray SOI pixel detector with the on-chip ADC

High-frequency component in flash visual evoked potentials in type 3 Gaucher disease

Juvenile-onset neuronal ceroid lipofuscinosis (CLN1) disease with a novel deletion and duplication in the PPT1 gene

Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3

Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3

Megalin is downregulated via LPS-TNF-α-ERK1/2 signaling pathway in proximal tubule cells

Miglustat therapy in a case of early-infantile Niemann-Pick type C

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease

pH-responsive pharmacological chaperones for lysosomal disease

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan

Qualitative analysis of patient characters, interviews on the burden of neuronopathic Gaucher disease in Japan

Quantitative computed tomography for enzyme replacement therapy in Pompe disease

Sorafenib attenuates monocrotaline-induced sinusoidal obstruction syndrome in rats through suppression of JNK and MMP-9

Strict actions of the human wrist extensors: A study with an electrical neuromuscular stimulation method

Aktive Filter

Suchergebnisse filtern