UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 86

Sortiert nach

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

PloS one, 2017-11, Vol.12 (11), p.e0187630-e0187630

2017

Volltextzugriff (PDF)

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.469-475

2008

Volltextzugriff (PDF)

Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis

PloS one, 2024-05, Vol.19 (5), p.e0302860-e0302860

2024

Volltextzugriff (PDF)

A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF

International journal of molecular sciences, 2024-03, Vol.25 (5), p.2870

2024

Volltextzugriff (PDF)

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.9-9, Article 9

2022

Volltextzugriff (PDF)

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

PloS one, 2018-05, Vol.13 (5), p.e0197529-e0197529

2018

Volltextzugriff (PDF)

Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

Molecular neurobiology, 2017-09, Vol.54 (7), p.5709-5719

2017

Volltextzugriff (PDF)

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL

BMC pediatrics, 2018-03, Vol.18 (1), p.95-95, Article 95

2018

Volltextzugriff (PDF)

Determination of amylose/amylopectin ratio of starches

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.985-986

2015

Volltextzugriff (PDF)

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Journal of clinical medicine, 2024-06, Vol.13 (12), p.3588

2024

Volltextzugriff (PDF)

Impact of COVID-19 on academic mothers

Science (American Association for the Advancement of Science), 2020-05, Vol.368 (6492), p.724-724

2020

Volltextzugriff (PDF)

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Journal of inherited metabolic disease, 2010-02, Vol.33 (1), p.51-60

2010

Volltextzugriff (PDF)

Assessment of quality of life in Gaucher disease: A methodological approach

Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1549-n/a

2021

Volltextzugriff (PDF)

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Molecular genetics and metabolism reports, 2018-03, Vol.14 (C), p.73-79

2018

Volltextzugriff (PDF)

Erratum to: Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

Molecular neurobiology, 2017-09, Vol.54 (7), p.5720-5720

2017

Volltextzugriff (PDF)

Time to fight the pandemic setbacks for caregiver academics

Nature human behaviour, 2021-10, Vol.5 (10), p.1262

2021

Volltextzugriff (PDF)

Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.603-607

2011

Volltextzugriff (PDF)

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

Journal of inherited metabolic disease, 2013-03, Vol.36 (2), p.357-362

2013

Volltextzugriff (PDF)

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Genetics and molecular biology, 2016-03, Vol.39 (1), p.30-34

2016

Volltextzugriff (PDF)

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.16-20

2016

Volltextzugriff (PDF)

Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de pediatria, 2015-05, Vol.91 (3), p.292-298

2015

Volltextzugriff (PDF)

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

American journal of hematology, 2018-02, Vol.93 (2), p.205-212

2018

Volltextzugriff (PDF)

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.92-93

2017

Volltextzugriff (PDF)

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.226-231

2018

Volltextzugriff (PDF)

Concerning 'Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease' by Nascimbeni et al

Liver international, 2021-01, Vol.41 (1), p.226-226

2021

Volltextzugriff (PDF)

1 – 25 von 86

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(85)
Mit Volltextzugriff
(84)

Publikationsform

Artikel
(85)
Buchkapitel
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

Efficacy and safety of onasemnogene abeparvovec for the treatment of patients with spinal muscular atrophy type 1: A systematic review with meta-analysis

A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF

Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL

Determination of amylose/amylopectin ratio of starches

Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry

Impact of COVID-19 on academic mothers

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Assessment of quality of life in Gaucher disease: A methodological approach

Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey

Erratum to: Serum Markers of Neurodegeneration in Maple Syrup Urine Disease

Time to fight the pandemic setbacks for caregiver academics

Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Analysis of body composition and nutritional status in Brazilian phenylketonuria patients

Maple syrup urine disease in Brazil: a panorama of the last two decades

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing

Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey

Concerning 'Liver steatosis is highly prevalent and is associated with metabolic risk factors and liver fibrosis in adult patients with type 1 Gaucher disease' by Nascimbeni et al

Suchergebnisse filtern