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...

Barth syndrome

Orphanet journal of rare diseases, 2013-02, Vol.8 (1), p.23-23, Article 23

2013

Volltextzugriff (PDF)

Diagnosing haemophagocytic syndrome

Archives of Disease in Childhood, 2017-03, Vol.102 (3), p.279-284

2017

Volltextzugriff (PDF)

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Blood, 2011-01, Vol.117 (1), p.53-62

2011

Volltextzugriff (PDF)

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-404, Article 404

2021

Volltextzugriff (PDF)

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome[S]

Journal of lipid research, 2015-09, Vol.56 (9), p.1787-1794

2015

Volltextzugriff (PDF)

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2726-2732

2012

Volltextzugriff (PDF)

Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience

Pediatric cardiology, 2016-01, Vol.37 (1), p.167-176

2016

Volltextzugriff (PDF)

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

Analytical biochemistry, 2009-04, Vol.387 (2), p.230-237

2009

Volltextzugriff (PDF)

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

Blood advances, 2020-05, Vol.4 (9), p.1998-2010

2020

Volltextzugriff (PDF)

Hematopoietic Stem Cell Transplantation for Osteopetrosis

The Pediatric clinics of North America, 2010-02, Vol.57 (1), p.171-180

Steward, Colin G., MD, PhD

2010

Volltextzugriff (PDF)

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Bone Reports, 2021-06, Vol.14, p.100738, Article 100738

2021

Volltextzugriff (PDF)

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.279-286

2015

Volltextzugriff (PDF)

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

Clinical chemistry (Baltimore, Md.), 2008-02, Vol.54 (2), p.371-378

2008

Volltextzugriff (PDF)

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis

Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.741-746

2013

Volltextzugriff (PDF)

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Nature genetics, 2011-10, Vol.43 (10), p.929-931

2011

Volltextzugriff (PDF)

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

BMC pediatrics, 2012-05, Vol.12 (1), p.48-48, Article 48

2012

Volltextzugriff (PDF)

Similar outcome of upfront‐unrelated and matched sibling stem cell transplantation in idiopathic paediatric aplastic anaemia. A study on behalf of the UK Paediatric BMT Working Party, Paediatric Diseases Working Party and Severe Aplastic Anaemia Working Party of EBMT

British journal of haematology, 2015-11, Vol.171 (4), p.585-594

2015

Volltextzugriff (PDF)

Dynamic Cardiolipin Synthesis Is Required for CD8 + T Cell Immunity

Cell metabolism, 2020-12, Vol.32 (6), p.981-995.e7

2020

Volltextzugriff (PDF)

The clinical features, risk factors and outcome of thrombotic thrombocytopenic purpura occurring after bone marrow transplantation

British journal of haematology, 2001-04, Vol.113 (1), p.58-64

2001

Volltextzugriff (PDF)

Neutropenia in Barth syndrome: characteristics, risks, and management

Current opinion in hematology, 2019-01, Vol.26 (1), p.6-15

2019

Volltextzugriff (PDF)

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.853-860

2017

Volltextzugriff (PDF)

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life

Pediatric blood & cancer, 2013-09, Vol.60 (9), p.E94-E96

2013

Volltextzugriff (PDF)

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service

JMIR research protocols, 2021-05, Vol.10 (5), p.e22533-e22533

2021

Volltextzugriff (PDF)

Lobar Collapse and Obliteration of Air Bronchogram Allowing Early Diagnosis of Endobronchial Aspergillus Infection following Hematopoietic Stem Cell Transplantation

Case reports in radiology, 2014-01, Vol.2014 (2014), p.1-4

2014

Volltextzugriff (PDF)

Therapy of malignant infantile osteopetrosis

Bone (New York, N.Y.), 2009-07, Vol.45, p.S50-S50

Steward, Colin G

2009

Volltextzugriff (PDF)

1 – 25 von 84

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

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

Publikationsform

Artikel
(81)
Berichte
(3)

Sprache

Englisch
(84)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(58)
Science & Technology
(58)
Humans
(55)
Male
(43)
Female
(34)
Adolescent
(32)
Biological And Medical Sciences
(31)
Medical Sciences
(31)
Child
(30)
Child, Preschool
(29)
Infant
(27)
Adult
(26)
Hematology
(26)
Pediatrics
(16)
Middle Aged
(14)
Hematologic And Hematopoietic Diseases
(13)
Infant, Newborn
(12)
Bone Marrow Transplantation
(11)
Retrospective Studies
(11)
Anesthesia. Intensive Care Medicine. Transfusions. Cell Therapy And Gene Therapy
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Barth syndrome

Diagnosing haemophagocytic syndrome

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K

Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome[S]

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

Hematopoietic Stem Cell Transplantation for Osteopetrosis

Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome

Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Similar outcome of upfront‐unrelated and matched sibling stem cell transplantation in idiopathic paediatric aplastic anaemia. A study on behalf of the UK Paediatric BMT Working Party, Paediatric Diseases Working Party and Severe Aplastic Anaemia Working Party of EBMT

Dynamic Cardiolipin Synthesis Is Required for CD8 + T Cell Immunity

The clinical features, risk factors and outcome of thrombotic thrombocytopenic purpura occurring after bone marrow transplantation

Neutropenia in Barth syndrome: characteristics, risks, and management

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service

Lobar Collapse and Obliteration of Air Bronchogram Allowing Early Diagnosis of Endobronchial Aspergillus Infection following Hematopoietic Stem Cell Transplantation

Therapy of malignant infantile osteopetrosis

Suchergebnisse filtern