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...

Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly

Journal of investigative dermatology, 2013-06, Vol.133 (6), p.1688-1690

2013

Volltextzugriff (PDF)

Amantadine for chronic hepatitis C: pilot study in 14 patients

European journal of gastroenterology & hepatology, 2000-12, Vol.12 (12), p.1319-1322

2000

Volltextzugriff (PDF)

Evidence for both in vivo and in vitro interaction between vigabatrin and alanine transaminase

British journal of clinical pharmacology, 1997-02, Vol.43 (2), p.163-168

1997

Volltextzugriff (PDF)

Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly

The Journal of investigative dermatology, 2013, Vol.133 (6), p.1688-1690

2013

Volltextzugriff (PDF)

The mitochondrial location of protoporphyrinogen oxidase

European journal of biochemistry, 1985-06, Vol.149 (2), p.431-435

1985

Volltextzugriff (PDF)

The incidence of inherited porphyrias in Europe

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.849-857

2013

Volltextzugriff (PDF)

From chemistry to genomics: A concise history of the porphyrias

Liver international, 2024-09, Vol.44 (9), p.2144-2155

2024

Volltextzugriff (PDF)

Afamelanotide for Erythropoietic Protoporphyria

The New England journal of medicine, 2015-07, Vol.373 (1), p.48-59

2015

Volltextzugriff (PDF)

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

Molecular genetics and metabolism, 2019-11, Vol.128 (3), p.236-241

2019

Volltextzugriff (PDF)

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

American journal of human genetics, 2006-01, Vol.78 (1), p.2-14

2006

Volltextzugriff (PDF)

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Genetics in medicine, 2019-11, Vol.21 (11), p.2605-2613

2019

Volltextzugriff (PDF)

Afamelanotide for Erythropoietic Protoporphyria

The New England journal of medicine, 2015-07, Vol.373 (1), p.48-59

2015

Volltextzugriff (PDF)

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

Nature genetics, 2002-01, Vol.30 (1), p.27-28

2002

Volltextzugriff (PDF)

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

American journal of human genetics, 2008-09, Vol.83 (3), p.408-414

2008

Volltextzugriff (PDF)

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Blood, 2011-08, Vol.118 (6), p.1443-1451

2011

Volltextzugriff (PDF)

The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia

Schizophrenia research, 2004-03, Vol.67 (1), p.75-85

2004

Volltextzugriff (PDF)

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

Human molecular genetics, 2013-04, Vol.22 (7), p.1280-1288

2013

Volltextzugriff (PDF)

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

Progress in neuro-psychopharmacology & biological psychiatry, 2010-04, Vol.34 (3), p.492-499

2010

Volltextzugriff (PDF)

Human Erythroid 5‑Aminolevulinate Synthase Mutations Associated with X‑Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release

Biochemistry (Easton), 2015-09, Vol.54 (36), p.5617-5631

2015

Volltextzugriff (PDF)

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

American journal of human genetics, 1999-10, Vol.65 (4), p.984-994

1999

Volltextzugriff (PDF)

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Blood, 1999-03, Vol.93 (6), p.2105-2110

1999

Volltextzugriff (PDF)

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

Journal of hepatology, 2000-06, Vol.32 (6), p.933-939

2000

Volltextzugriff (PDF)

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

Human molecular genetics, 2005-10, Vol.14 (20), p.3089-3098

2005

Volltextzugriff (PDF)

EXPLORE : Étude prospective, multinationale de l’évolution naturelle des patients atteints de porphyrie hépatique aiguë avec des crises récurrentes

Revue neurologique, 2019-04, Vol.175, p.S114-S115

2019

Volltextzugriff (PDF)

1 – 25 von 80

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(74)
Mit Volltextzugriff
(73)

Publikationsform

Sprache

Englisch
(75)
Französisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly

Amantadine for chronic hepatitis C: pilot study in 14 patients

Evidence for both in vivo and in vitro interaction between vigabatrin and alanine transaminase

Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly

The mitochondrial location of protoporphyrinogen oxidase

The incidence of inherited porphyrias in Europe

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

From chemistry to genomics: A concise history of the porphyrias

Afamelanotide for Erythropoietic Protoporphyria

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

Afamelanotide for Erythropoietic Protoporphyria

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

Human Erythroid 5‑Aminolevulinate Synthase Mutations Associated with X‑Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria

EXPLORE : Étude prospective, multinationale de l’évolution naturelle des patients atteints de porphyrie hépatique aiguë avec des crises récurrentes

Suchergebnisse filtern