UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2291-2296

2005

Volltextzugriff (PDF)

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Nature (London), 2018-11, Vol.563 (7732), p.564-568

2018

Volltextzugriff (PDF)

Formulation and clinical evaluation of carbidopa/levodopa oral solution for the treatment of sepiapterin reductase deficiency

European journal of pharmaceutics and biopharmaceutics, 2024-10, Vol.203, p.114429, Article 114429

2024

Volltextzugriff (PDF)

Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice

Arthritis & rheumatology (Hoboken, N.J.), 2020-01, Vol.72 (1), p.57-66

2020

Volltextzugriff (PDF)

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502

2021

Volltextzugriff (PDF)

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2294-n/a

2024

Volltextzugriff (PDF)

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

Scientific reports, 2017-11, Vol.7 (1), p.14675-9, Article 14675

2017

Volltextzugriff (PDF)

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

BMC medical genetics, 2016-09, Vol.17 (1), p.65-65, Article 65

2016

Volltextzugriff (PDF)

Sepiapterin reductase deficiency: Report of 5 new cases

European journal of paediatric neurology, 2017-05, Vol.21 (3), p.583-586

2017

Volltextzugriff (PDF)

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

Acta neurologica Scandinavica, 2014-04, Vol.129 (s198), p.7-12

2014

Volltextzugriff (PDF)

Protein Inhibitor of NOS1 Plays a Central Role in the Regulation of NOS1 Activity in Human Dilated Hearts

Scientific reports, 2016-08, Vol.6 (1), p.30902-30902, Article 30902

2016

Volltextzugriff (PDF)

Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

Brain & development (Tokyo. 1979), 2011-11, Vol.33 (10), p.847-855

Niu, Dau-Ming

2011

Volltextzugriff (PDF)

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.116-120

2006

Volltextzugriff (PDF)

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Parkinsonism & related disorders, 2012-02, Vol.18 (2), p.191-193

2012

Volltextzugriff (PDF)

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

Molecular genetics and metabolism, 2013-03, Vol.108 (3), p.195-197

2013

Volltextzugriff (PDF)

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

Neurogenetics, 2011-08, Vol.12 (3), p.183-191

2011

Volltextzugriff (PDF)

Sepiapterin reductase expression is increased in Parkinson's disease brain tissue

Brain research, 2007-03, Vol.1139, p.42-47

2007

Volltextzugriff (PDF)

Two Greek siblings with sepiapterin reductase deficiency

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.403-409

2008

Volltextzugriff (PDF)

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Neurogenetics, 2004-09, Vol.5 (3), p.187-190

2004

Volltextzugriff (PDF)

Localization of sepiapterin reductase in the human brain

Brain research, 2002-11, Vol.954 (2), p.237-246

2002

Volltextzugriff (PDF)

1 – 20 von 20

Suche als RSS-Feed

Aktive Filter

ThemaFemale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(20)
Mit Volltextzugriff
(19)

Publikationsform

Artikel
(20)

Sprache

Englisch
(20)

Erscheinungsjahr

n.n

Thema

Humans
(20)
Science & Technology
(20)
Life Sciences & Biomedicine
(17)
Sepiapterin Reductase
(17)
Male
(13)
Tetrahydrobiopterin
(10)
Alcohol Oxidoreductases - Genetics
(9)
Child
(9)
Neurosciences & Neurology
(9)
Adolescent
(8)
Adult
(8)
Genetics & Heredity
(8)
Biopterins - Analogs & Derivatives
(7)
Clinical Neurology
(7)
Middle Aged
(7)
Mutation
(6)
Neurology
(6)
Alcohol Oxidoreductases - Metabolism
(5)
Biological And Medical Sciences
(5)

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Formulation and clinical evaluation of carbidopa/levodopa oral solution for the treatment of sepiapterin reductase deficiency

Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Sepiapterin reductase deficiency: Report of 5 new cases

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

Protein Inhibitor of NOS1 Plays a Central Role in the Regulation of NOS1 Activity in Human Dilated Hearts

Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

Sepiapterin reductase expression is increased in Parkinson's disease brain tissue

Two Greek siblings with sepiapterin reductase deficiency

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia

Localization of sepiapterin reductase in the human brain

Aktive Filter

Suchergebnisse filtern