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...

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Nutrients, 2021-08, Vol.13 (9), p.2987

2021

Volltextzugriff (PDF)

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Fluids and barriers of the CNS, 2017-09, Vol.14 (1), p.23-23, Article 23

2017

Volltextzugriff (PDF)

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Fluids and barriers of the CNS, 2017-10, Vol.14 (1), p.28-28, Article 28

2017

Volltextzugriff (PDF)

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.76-76, Article 76

2016

Volltextzugriff (PDF)

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Journal of paediatrics and child health, 2021-04, Vol.57 (4), p.519-525

2021

Volltextzugriff (PDF)

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Genetics in medicine, 2018-11, Vol.20 (11), p.1423-1429

2018

Volltextzugriff (PDF)

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.529-536

2015

Volltextzugriff (PDF)

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PloS one, 2017-06, Vol.12 (6), p.e0180463-e0180463

2017

Volltextzugriff (PDF)

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

Clinical & experimental ophthalmology, 2020-04, Vol.48 (3), p.334-342

2020

Volltextzugriff (PDF)

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.197-206

2019

Volltextzugriff (PDF)

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

PloS one, 2017-05, Vol.12 (5), p.e0177503-e0177503

2017

Volltextzugriff (PDF)

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2891-2901

2020

Volltextzugriff (PDF)

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

JIMD reports, 2021-07, Vol.60 (1), p.32-41

2021

Volltextzugriff (PDF)

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

The Pediatric clinics of North America, 2018-04, Vol.65 (2), p.247-265

2018

Volltextzugriff (PDF)

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

BMC medical genetics, 2014-09, Vol.15 (1), p.96-96, Article 96

2014

Volltextzugriff (PDF)

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.987-987

2015

Volltextzugriff (PDF)

Body composition in patients with hepatic glycogen storage diseases

Nutrition (Burbank, Los Angeles County, Calif.), 2022-11, Vol.103-104, p.111763-111763, Article 111763

2022

Volltextzugriff (PDF)

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Biochimica et biophysica acta, 2016-09, Vol.1862 (9), p.1608-1616

2016

Volltextzugriff (PDF)

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

Child's nervous system, 2017-07, Vol.33 (7), p.1073-1080

2017

Volltextzugriff (PDF)

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

Human molecular genetics, 2017-10, Vol.26 (19), p.3837-3849

2017

Volltextzugriff (PDF)

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study

Journal of inborn errors of metabolism and screening, 2024, Vol.12

2024

Volltextzugriff (PDF)

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.764-764

2012

Volltextzugriff (PDF)

Diagnosis and Management of Classical Homocystinuria in Brazil

Journal of inborn errors of metabolism and screening, 2018-08, Vol.6

2018

Volltextzugriff (PDF)

Glycogen storage disease type I: clinical and laboratory profile

Jornal de pediatria, 2014-11, Vol.90 (6), p.572-579

2014

Volltextzugriff (PDF)

Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

Journal of inborn errors of metabolism and screening, 2018-08, Vol.6, p.232640981878890

2018

Volltextzugriff (PDF)

1 – 25 von 307

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(281)
Mit Volltextzugriff
(270)

Publikationsform

Sprache

Englisch
(303)
Portugiesisch
(9)

Erscheinungsjahr

n.n

Thema

Science & Technology
(230)
Life Sciences & Biomedicine
(196)
Humans
(110)
Female
(69)
Male
(61)
Animals
(55)
Adult
(41)
Physical Sciences
(33)
Brazil
(32)
Biochemistry & Molecular Biology
(31)
Chemistry
(30)
Middle Aged
(30)
Adolescent
(29)
Aged
(27)
Patients
(23)
Child
(22)
Infectious Diseases
(22)
Genetics & Heredity
(21)
Science & Technology - Other Topics
(21)
Covid-19
(20)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(7)

Menü

Weitere Dienste

Einstellungen

Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients

Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Body composition in patients with hepatic glycogen storage diseases

Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

Diagnosis and Management of Classical Homocystinuria in Brazil

Glycogen storage disease type I: clinical and laboratory profile

Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

Suchergebnisse filtern