UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 84

Sortiert nach

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Journal of bone and mineral research, 2020-11, Vol.35 (11), p.2171-2178

2020

Link zum Volltext

Verfügbarkeit prüfen

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

JIMD reports, 2021-09, Vol.61 (1), p.42-47

2021

Link zum Volltext

Verfügbarkeit prüfen

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

Stem cell research, 2020-10, Vol.48, p.101964-101964, Article 101964

2020

Link zum Volltext

Verfügbarkeit prüfen

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity

Journal of bone and mineral metabolism, 2019-09, Vol.37 (5), p.893-899

2019

Link zum Volltext

Verfügbarkeit prüfen

Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)

Stem cell research, 2022-10, Vol.64, p.102921-102921, Article 102921

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient

Stem cell research, 2022-10, Vol.64, p.102891-102891, Article 102891

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Stem cell research, 2020-10, Vol.48, p.101934-101934, Article 101934

2020

Link zum Volltext

Verfügbarkeit prüfen

Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia

Stem cell research, 2022-08, Vol.63, p.102839-102839, Article 102839

2022

Link zum Volltext

Verfügbarkeit prüfen

Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Stem cell research, 2020-10, Vol.48, p.101935-101935, Article 101935

2020

Link zum Volltext

Verfügbarkeit prüfen

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study

BMC pediatrics, 2018-01, Vol.18 (1), p.9-9, Article 9

2018

Link zum Volltext

Verfügbarkeit prüfen

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-277, Article 277

2022

Link zum Volltext

Verfügbarkeit prüfen

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry

Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.109-109

2024

Link zum Volltext

Verfügbarkeit prüfen

Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome

Stem cell research, 2021-05, Vol.53, p.102355-102355, Article 102355

2021

Link zum Volltext

Verfügbarkeit prüfen

Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

Bone Reports, 2022-12, Vol.17, p.101617, Article 101617

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome

Stem cell research, 2021-05, Vol.53, p.102283-102283, Article 102283

2021

Link zum Volltext

Verfügbarkeit prüfen

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1138599-1138599

2023

Link zum Volltext

Verfügbarkeit prüfen

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100661, Article 100661

2020

Link zum Volltext

Verfügbarkeit prüfen

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome

Cells (Basel, Switzerland), 2021-03, Vol.10 (3), p.568

2021

Link zum Volltext

Verfügbarkeit prüfen

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

BMC health services research, 2019-11, Vol.19 (1), p.896-896, Article 896

2019

Link zum Volltext

Verfügbarkeit prüfen

Growth and disease burden in children with hypophosphatasia

Endocrine Connections, 2023-05, Vol.12 (5), p.1-12

2023

Link zum Volltext

Verfügbarkeit prüfen

Does specialist physician supply affect pediatric asthma health outcomes?

BMC health services research, 2018-04, Vol.18 (1), p.247-247, Article 247

2018

Link zum Volltext

Verfügbarkeit prüfen

P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry

Genetics in Medicine Open, 2023, Vol.1 (1), p.100541, Article 100541

2023

Link zum Volltext

Verfügbarkeit prüfen

P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis

Genetics in Medicine Open, 2024, Vol.2, p.101379

2024

Link zum Volltext

Verfügbarkeit prüfen

Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

Frontiers in pediatrics, 2021-07, Vol.9, p.678553-678553

2021

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 84

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(76)
Mit Volltextzugriff
(81)

Publikationsform

Sprache

Englisch
(84)
Japanisch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(54)
Life Sciences & Biomedicine
(53)
Humans
(25)
Endocrinology & Metabolism
(18)
Hypophosphatasia
(15)
Pediatrics
(13)
Alkaline Phosphatase
(12)
Genetics & Heredity
(12)
Cell Biology
(10)
Female
(10)
Child
(9)
Male
(9)
Mutation
(9)
Patients
(9)
Adult
(8)
Biotechnology & Applied Microbiology
(8)
Cell & Tissue Engineering
(8)
Infant
(8)
Infant, Newborn
(8)
Medicine, Research & Experimental
(8)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity

Reprogramming of Hypophosphatasia patient cells to generate a new human iPSC cell line (UOMi009-A)

Generation of new human iPSC cell line (UOMi008-A) from a Hypophosphatasia patient

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Establishment of a new human iPSC cell line (UOMi007-A) from a patient with Hypophosphatasia

Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry

Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome

Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

Generation of human induced pluripotent stem cell (hiPSC) line UOMi005-A from PBMCs of a patient with Kearns-Sayre syndrome

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

Growth and disease burden in children with hypophosphatasia

Does specialist physician supply affect pediatric asthma health outcomes?

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

P494: An analysis of ALPL gene variants in patients with hypophosphatasia from the Global Hypophosphatasia Registry

P480: Parent and healthcare personnel perspectives on challenges to family-centered care for children with inherited metabolic diseases: A qualitative analysis

Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

Suchergebnisse filtern