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...

Audiological and radiological study of eight polish patients with alpha-mannosidosis

International journal of pediatric otorhinolaryngology, 2023-06, Vol.169, p.111556-111556, Article 111556

2023

Volltextzugriff (PDF)

Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.87-87, Article 87

2022

Volltextzugriff (PDF)

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

Osteoarthritis and cartilage, 2013-12, Vol.21 (12), p.1813-1823

2013

Volltextzugriff (PDF)

The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels

Lipids, 2013-04, Vol.48 (4), p.405-409

2013

Volltextzugriff (PDF)

Non-neuronopathic Gaucher disease due to saposin C deficiency

Clinical genetics, 2007-12, Vol.72 (6), p.538-542

2007

Volltextzugriff (PDF)

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

European journal of endocrinology, 2012-02, Vol.166 (2), p.291-294

2012

Volltextzugriff (PDF)

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.203-208

2018

Volltextzugriff (PDF)

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

Clinical genetics, 2009-01, Vol.75 (1), p.57-64

2009

Volltextzugriff (PDF)

Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

Journal of hepatology, 2016, Vol.64 (2), p.S298-S299

2016

Volltextzugriff (PDF)

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up

Acta Paediatrica, 2012-01, Vol.101 (1), p.e42-e47

2012

Volltextzugriff (PDF)

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical genetics, 2005-07, Vol.68 (1), p.48-54

2005

Volltextzugriff (PDF)

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Journal of inherited metabolic disease, 2018-05, p.1-11

2018

Volltextzugriff (PDF)

A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses

Medical hypotheses, 2004-01, Vol.62 (6), p.986-992

2004

Volltextzugriff (PDF)

Management of neuronopathic Gaucher disease: Revised recommendations

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.660-664

2009

Volltextzugriff (PDF)

Enzyme replacement therapy in type III Gaucher disease

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.203-204

1999

Volltextzugriff (PDF)

Decreasing serum VLCFA levels in ageing X‐ALD female carriers

Journal of inherited metabolic disease, 2001-12, Vol.24 (8), p.851-857

2001

Volltextzugriff (PDF)

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.319-336

2008

Volltextzugriff (PDF)

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

Clinical genetics, 2011-11, Vol.80 (5), p.459-465

2011

Volltextzugriff (PDF)

How can we treat lysosomal disorders?

European journal of paediatric neurology, 2008, Vol.12, p.S24-S24

Tylki-Szymańska, A

2008

Volltextzugriff (PDF)

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1015-1024

2013

Volltextzugriff (PDF)

Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

European journal of paediatric neurology, 2008, Vol.12, p.S14-S15

2008

Volltextzugriff (PDF)

Adrenoleukodystrophy (X-ALD) – changes in serum VLCFA profile and clinical course of patients following bone marrow transplantation and administration of Lorenzo oil

European journal of paediatric neurology, 2008, Vol.12, p.S73-S74

2008

Volltextzugriff (PDF)

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.935-942

2007

Volltextzugriff (PDF)

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.41-48

2013

Volltextzugriff (PDF)

Very long-chain fatty acids in Rett syndrome

European journal of pediatrics, 1999-03, Vol.158 (3), p.226-229

1999

Volltextzugriff (PDF)

1 – 25 von 398

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(369)
Mit Volltextzugriff
(345)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

Audiological and radiological study of eight polish patients with alpha-mannosidosis

Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels

Non-neuronopathic Gaucher disease due to saposin C deficiency

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses

Management of neuronopathic Gaucher disease: Revised recommendations

Enzyme replacement therapy in type III Gaucher disease

Decreasing serum VLCFA levels in ageing X‐ALD female carriers

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

How can we treat lysosomal disorders?

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

Adrenoleukodystrophy (X-ALD) – changes in serum VLCFA profile and clinical course of patients following bone marrow transplantation and administration of Lorenzo oil

Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Very long-chain fatty acids in Rett syndrome

Suchergebnisse filtern