Výsledky vyhledávání - "Berit Woldseth"

Akademický článek

A monoallelic UXS1 variant associated with short‐limbed short stature

Autor: Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

Abstract Background Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xyl

Externí odkaz: https://doaj.org/article/dc7662c3d97b439ab41d265a01d9ab8e

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Akademický článek

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

Publikováno v: International Journal of Neonatal Screening, Vol 6, Iss 3, p 51 (2020)

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 Marc

Externí odkaz: https://doaj.org/article/ee83f4da7b56404183a2012eb12ea9e8

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The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study

Autor: Anna Bjerre, Sonja Amdal Aase, Maria Radtke, Christian Siva, Helga Gudmundsdottir, Brita Forsberg, Berit Woldseth, Damien Brackman

Publikováno v: Pediatric Nephrology.

Background Nephropathic cystinosis is a rare lysosomal storage disorder in which accumulation of cystine and formation of crystals particularly impair kidney function and gradually lead to multi-organ dysfunction. Lifelong therapy with the aminothiol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3c9e9d03c0be92d9c245943585cc5b65
https://doi.org/10.1007/s00467-023-06005-w

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Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency

Autor: Johannes Häberle, Hallvard Reigstad, Berit Woldseth

Publikováno v: JIMD Reports ISBN: 9783662563588

A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d59bacf262f058d3ac4c08bea1944fff
https://doi.org/10.1007/8904_2017_13

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Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation

Autor: Else Brodtkorb, Magnar Bjørås, Paul Hoff Backe, Berit Woldseth, Helge Rootwelt, Lars Eide, Terje Rootwelt, Janne Strand, Anne Marie Lund

Publikováno v: Molecular Genetics and Metabolism. 100:324-332

Maple syrup urine disease (MSUD) is caused by a defect in branched chain alpha-ketoacid dehydrogenase complex (BCKD), an essential metabolon for the catabolism of the branched chain amino acids. Here, we report four novel mutations in the DBT gene, e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33e6122e7138ca9608df1501cc2ee6e4
https://doi.org/10.1016/j.ymgme.2010.04.017

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Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway

Autor: Petter Strømme, Per Magnus, Oivind Juris Kanavin, P. Suren, Michael Abdelnoor, Terje Rootwelt, Berit Woldseth

Publikováno v: European Journal of Paediatric Neurology. 14:138-145

Background/objective Progressive encephalopathy (PE) is a heterogeneous group of individually rare diseases, many with an autosomal recessive mode of inheritance. We estimated the increased risk of PE associated with consanguinity. Patients and metho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39089667127f377ebce7bc31f6424b93
https://doi.org/10.1016/j.ejpn.2009.03.007

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Publikováno v: Journal of Inherited Metabolic Disease, 39(2), 243-252. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Background: The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficienc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070c2eafaa93092f32a5b226caba1c43
https://pure.eur.nl/en/publications/eaf0bd5d-c2f1-4aec-872e-21f70ce8f61e

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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Autor: Kristine Stadskleiv, Sacha Ferdinandusse, Tuva Barøy, Else Merckoll, Petter Strømme, Eirik Frengen, Merel S. Ebberink, Ronald J.A. Wanders, Doriana Misceo, Jostein Westvik, Hans R. Waterham, Berit Woldseth, Nick Wood, Bjørn Tvedt, John H. Walter, Asbjørn Holmgren, Janet Koster, Timothy P. Hughes

Publikováno v: Human molecular genetics, 24(20), 5845-5854. Oxford University Press

Import of peroxisomal matrix proteins, crucial for peroxisome biogenesis, is mediated by the cytosolic receptors PEX5 and PEX7 that recognize proteins carrying peroxisomal targeting signals 1 or 2 (PTS1 or PTS2), respectively. Mutations in PEX5 or 12

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fc967d0d3b8c4ec506bc9a1012e3ad6
https://pure.amc.nl/en/publications/a-novel-type-of-rhizomelic-chondrodysplasia-punctata-rcdp5-is-caused-by-loss-of-the-pex5-long-isoform(9f4fc048-8a3e-4aeb-a1a4-6ea6fcec0c77).html

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A comparative study of the metabolism of n-9, n-6 and n-3 fatty acids in testicular cells from immature rat

Autor: Berit Woldseth, Bjørn O. Christophersen, Trine B. Haugen, Kjetil Retterstøl

Publikováno v: Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism. 1392:59-72

Dietary 18 and 20-carbon fatty acids of the n-6 and the n-3 families are metabolized to 22:5,n-6 and 22:6,n-3 by a sequence of specific desaturases and chain elongation via 24-carbon intermediates. This pathway is regulated so that more 22:6,n-3 than

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d43e890660801af8a02777522eee8e
https://doi.org/10.1016/s0005-2760(98)00021-6

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Monounsaturatedtransfatty acids, elaidic acid andtrans-vaccenic acid, metabolism and incorporation in phospholipid molecular species in hepatocytes

Autor: Berit Woldseth, Bjørn O. Christophersen, Kjetil Retterstøl

Publikováno v: Scandinavian Journal of Clinical and Laboratory Investigation. 58:635-645

The incorporation of [ 14 C]elaidic acid (trans18 : 1 (n-9)) in phosphatidylcholine and phosphatidylethanolamine molecular species in isolated rat liver cells has been studied, and the results compared with the incorporation, previously published (B.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f12a0072e097600338cb1b0fc3f80d
https://doi.org/10.1080/00365519850186067

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