Zobrazeno 1 - 10
of 120
pro vyhledávání: '"C, Grünert"'
Autor:
Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Background Implementation of long-chain fatty acid oxidation defects (LCFAOD) in newborn screening (NBS) programs allows for pre-symptomatic diagnosis and treatment. The long-term natural history of NBS LCFAOD patients is largely unknown and
Externí odkaz:
https://doaj.org/article/99354afd89a84efd836f80d0d5d489ca
Autor:
Anke Schumann, Marion Brutsche, Monique Havermans, Sarah C. Grünert, Stefan Kölker, Olaf Groß, Luciana Hannibal, Ute Spiekerkoetter
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Methylmalonic aciduria (MMA-uria) is caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). MUT deficiency hampers energy generation from specific amino acids, odd-chain fatty acids and cholesterol. Chronic kidney d
Externí odkaz:
https://doaj.org/article/78c8d21b0a0844deb166ddcbdc7c3b6e
Autor:
Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 252-258 (2023)
Abstract In patients with glycogen storage disease type Ib (GSD Ib), quality of life is severely hampered by neutropenia and neutropenia‐associated symptoms. SGLT2 inhibitors are a new treatment option and have shown improved medical outcomes in mo
Externí odkaz:
https://doaj.org/article/a082732ba9dc4d05970f39a2d3b79499
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid pr
Externí odkaz:
https://doaj.org/article/20ed58046818443f9f1a88cb31d8506b
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum
Autor:
Sarah C. Grünert, Athanasia Ziagaki, André Heinen, Anke Schumann, Sara Tucci, Ute Spiekerkoetter, Miriam Schmidts
Publikováno v:
Genes, Vol 14, Iss 7, p 1408 (2023)
Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine. To our knowledge, only five cases of RFVT1 d
Externí odkaz:
https://doaj.org/article/2bcd8de1a19549a9ab480551383fea8e
Autor:
Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined
Externí odkaz:
https://doaj.org/article/69b9f93813504547987ea42901d7b116
Autor:
E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observation
Externí odkaz:
https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7
Publikováno v:
Diagnostics, Vol 13, Iss 10, p 1803 (2023)
Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made in the cytosol
Externí odkaz:
https://doaj.org/article/8f930b55bb544eda8fb49f0bd0a72fec
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Childhood hypoglycemia in combination with hepatomegaly is suspicious for inborn errors of metabolism. Cystic fibrosis typically presents with failure to thrive, pulmonary and gastrointestinal symptoms. Hepatic involvement and hyp
Externí odkaz:
https://doaj.org/article/e166851ee18e47a5867cc94d8a99b26a