WorldCat Identities

Wortmann, Saskia B.

Overview
Works: 26 works in 26 publications in 3 languages and 51 library holdings
Roles: Other, Contributor, Author
Publication Timeline
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Most widely held works by Saskia B Wortmann
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib by Sarah Grünert( )

1 edition published in 2020 in English and held by 3 WorldCat member libraries worldwide

Abstract: Background<br>Glycogen storage disease type Ib (GSD Ib) is a rare inborn error of glycogen metabolism due to mutations in SLC37A4. Besides a severe form of fasting intolerance, the disorder is usually associated with neutropenia and neutrophil dysfunction causing serious infections, inflammatory bowel disease, oral, urogenital and perianal lesions as well as impaired wound healing. Recently, SGLT2 inhibitors such as empagliflozin that reduce the plasma levels of 1,5-anhydroglucitol have been described as a new treatment option for the neutropenia and neutrophil dysfunction in patients with GSD Ib.<br><br>Results<br><br>We report on a 35-year-old female patient with GSD Ib who had been treated with G-CSF for neutropenia since the age of 9. She had a large chronic abdominal wound as a consequence of recurrent operations due to complications of her inflammatory bowel disease. Treatment with 20 mg empagliflozin per day resulted in normalisation of the neutrophil count and neutrophil function even after termination of G-CSF. The chronic abdominal wound that had been unchanged for 2 years before the start of empagliflozin nearly closed within 12 weeks. No side effects of empagliflozin were observed.<br><br>Conclusion<br>SGLT2 inhibitors are a new and probably safe treatment option for GSD Ib-associated neutropenia and neutrophil dysfunction. We hypothesize that restoration of neutrophil function and normalisation of neutrophil apoptosis leads to improvement of wound healing and ameliorates symptoms of inflammatory bowel disease
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by The DDD study( )

1 edition published in 2019 in English and held by 2 WorldCat member libraries worldwide

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency by Amelie S Lotz-Havla( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing by Laura S Kremer( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression by Samira Achouitar( )

1 edition published in 2011 in English and held by 2 WorldCat member libraries worldwide

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations by Martina Huemer( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

Next-Generation-Sequenzierung - Next-Generation-Qualität in der Pädiatrie by Saskia B Wortmann( )

1 edition published in 2018 in German and held by 2 WorldCat member libraries worldwide

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature by Saskia B Wortmann( )

1 edition published in 2013 in English and held by 2 WorldCat member libraries worldwide

Severe ichthyosis in MPDU1-CDG by Christian Thiel( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients by Karlien L. M Coene( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency is riboflavin supplementation effective? by Birgit M Repp( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

The role of the clinician in the multi-omics era: are you ready? by Clara D. M. van Karnebeek( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

'Dankzij vier patiëntjesvond ik nieuwe ziekte' by Saskia Wortmann( )

1 edition published in 2013 in Dutch and held by 2 WorldCat member libraries worldwide

MEGDEL Syndrome: Expanding the Phenotype and New Mutations( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients by Additional individual contributors( )

1 edition published in 2017 in English and held by 2 WorldCat member libraries worldwide

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language by Lot Snijders Blok( )

1 edition published in 2018 in English and held by 2 WorldCat member libraries worldwide

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome( )

1 edition published in 2015 in English and held by 2 WorldCat member libraries worldwide

 
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WorldCat IdentitiesRelated Identities
Alternative Names
Wortmann, Saskia

Languages
English (18)

German (1)

Dutch (1)