Výsledky vyhledávání - "G. Peter A. Smit"

Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

Autor: Deborah A Sival, Natasha M. Maurits, Johannes H. van der Hoeven, Christiaan P Sentner, R.J. Verbeek, Terry G J Derks, G. Peter A. Smit

Publikováno v: Ultrasound in Medicine and Biology, 42(1), 133-142. ELSEVIER SCIENCE INC
Ultrasound in Medicine and Biology, 42(1), 133-142. Elsevier USA
Verbeek, R J, Sentner, C P, Smit, G P A, Maurits, N M, Derks, T G J, van der Hoeven, J H & Sival, D A 2016, ' Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III ', Ultrasound in Medicine and Biology, vol. 42, no. 1, pp. 133-142 . https://doi.org/10.1016/j.ultrasmedbio.2015.08.013

In glycogen storage diseases (GSDs), improved longevity has resulted in the need for neuromuscular surveillance. In 12 children and 14 adults with the "hepatic'' (GSD-I) and "myopathic'' (GSD-III) phenotypes, we cross-sectionally assessed muscle ultr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e46273094e25848025438ddf83ef91
https://hdl.handle.net/11370/14391581-0000-4618-9779-fd4b99723320

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In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases

Autor: Terry G J Derks, Ingrid Dalira Schweigert Perry, Mario T. R. van Wandelen, G. Peter A. Smit, Tatiéle Nalin, David A. Weinstein, Koen Venema, Carolina Fischinger Moura de Souza, Margreet van Rijn, Ida Vanessa Doederlein Schwartz

Publikováno v: Journal of Inherited Metabolic Disease, 38(3), 529-536. Wiley
Journal of Inherited Metabolic Disease, 38(3), 529-536. SPRINGER

Uncooked cornstarch (UCCS) is a widely used treatment strategy for patients with hepatic glycogen storage disease (GSD). It has been observed that GSD-patients display different metabolic responses to different cornstarches. The objective was to char

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c338023068dacab9c045222e2fddf901
https://doi.org/10.1007/s10545-014-9763-y

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Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy

Autor: Gilles Mithieux, Julie Clar, Yann Herault, Marie-Christine Birling, Fabienne Rajas, Julien Calderaro, G. Peter A. Smit, Blandine Gri

Publikováno v: Kidney International
Kidney International, Nature Publishing Group, 2014, 86 (4), pp.747-756. ⟨10.1038/ki.2014.102⟩
Kidney International, 86(4), 747-756. ELSEVIER SCIENCE INC

International audience; Renal failure is a major complication that arises with aging in glycogen storage disease type1a and type 1b patients. In the kidneys, glucose-6 phosphatase catalytic subunit (encoded byG6pc) deficiency leads to the accumulatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ada9a1653e7b729f7fa0d02cf74f8f51
https://doi.org/10.1038/ki.2014.102

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A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Autor: Frans W. Verheijen, Hans R. Waterham, Rolf H. Sijmons, Dick Lindhout, Ans T. van der Ploeg, Gepke Visser, M. Estela Rubio Gozalbo, Annet Sollie, Rudolph Wijburg, Sonja van Weely, G. Peter A. Smit, Frits A. Wijburg

Publikováno v: Human mutation, 34(7), 967-973. Wiley-Liss Inc.
Human Mutation, 34(7), 967-973. Wiley
Human Mutation, 34(7), 967-973. Wiley-Liss Inc.

Data sharing is essential for a better understanding of genetic disorders. Good phenotype coding plays a key role in this process. Unfortunately, the two most widely used coding systems in medicine, ICD-10 and SNOMED-CT, lack information necessary fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41220fcfc49a55cda48c6f13bc21a02c
https://doi.org/10.1002/humu.22316

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Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients

Autor: Wilco de Jager, Frits A. Wijburg, Gepke Visser, Paul J. Coffer, Miranda Buitenhuis, Berent J. Prakken, G. Peter A. Smit, Liesbeth P. Verhagen

Publikováno v: Journal of Inherited Metabolic Disease, 35(2), 287-300. Springer Netherlands
Journal of inherited metabolic disease, 35(2), 287-300. Springer Netherlands
Journal of Inherited Metabolic Disease, 35(2), 287-300. SPRINGER

Glycogen storage disease type 1b (GSD 1b) is caused by mutations in the Glucose-6-phosphate transporter and is characterized by impaired glucose homeostasis. In addition, GSD-1b is associated with chronic neutropenia resulting in recurrent infections

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9dad51aed12711c05b8a5075763ccc8
https://doi.org/10.1007/s10545-011-9379-4

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Glycogen Storage Disease Type III diagnosis and management guidelines

Autor: Michael S. Watson, Pamela Arn, Dev M. Desai, Deeksha Bali, Lisa D. Hobson-Webb, Stephanie Austin, Ronald G. Haller, Wendy K. Chung, Anne Boney, Laura E. Case, David A. Weinstein, Stephanie Burns Wechsler, Alastair D. Smith, Areeg El-Gharbawy, Priya S. Kishnani, G. Peter A Smit

Publikováno v: Genetics in Medicine, 12(7), 446-463. Nature Publishing Group

Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines doe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f35f8d3a1fa70c0eb85f02acfec8b8d
https://doi.org/10.1097/GIM.0b013e3181e655b6

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Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice

Autor: Folkert Kuipers, Albert Gerding, Hillechien Herrema, Terry G J Derks, Vincent W. Bloks, Uwe J. F. Tietge, G. Peter A. Smit, Michael Müller, Dirk-Jan Reijngoud, Theo H. van Dijk, Rick Havinga

Publikováno v: Hepatology, 47(6), 1894-1904
Hepatology, 47(6), 1894-1904. Wiley
Hepatology 47 (2008) 6

UNLABELLED: Medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) catalyzes crucial steps in mitochondrial fatty acid oxidation, a process that is of key relevance for maintenance of energy homeostasis, especially during high metabolic demand. To g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3917fefeb0265bea1d15215426191b75
https://research.rug.nl/en/publications/5496cf0d-2abe-4d12-8aba-8a8446bbc2df

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Inhibition of mitochondrial fatty acid oxidation in vivo only slightly suppresses gluconeogenesis but enhances clearance of glucose in mice

Autor: Terry G J Derks, Folkert Kuipers, G. Peter A. Smit, Aldo Grefhorst, Jan Peter Rake, Theo H. van Dijk, Dirk-Jan Reijngoud

Publikováno v: Hepatology, 47(3), 1032-1042. Wiley
Hepatology, 47(3), 1032-1042. John Wiley and Sons Ltd

Mitochondrial fatty acid oxidation (mFAO) is considered to be essential for driving gluconeogenesis (GNG) during fasting. However, quantitative in vivo data on de novo synthesis of glucose-6-phosphate upon acute inhibition of mFAO are lacking. We ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc969c46e5cb74afaa11599a6e37b4c
https://doi.org/10.1002/hep.22101

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Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency

Autor: Dirk-Jan Reijngoud, Elisabeth M. TenVergert, G. Peter A. Smit, Christian S. van der Hilst, Terry G J Derks

Publikováno v: Journal of Pediatrics, 151(2), 115-120. MOSBY-ELSEVIER

OBJECTIVE: To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population.STUDY DESIGN: For the scenario without neonatal screening, medical chart review and interviews were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129d75891f60d31067764b2890e0ef32
https://doi.org/10.1016/j.jpeds.2007.03.013

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Dietary management in glycogen storage disease type III: What is the evidence?

Autor: Terry G J Derks, G. Peter A. Smit

Publikováno v: Journal of Inherited Metabolic Disease, 38(3), 545-550. SPRINGER

In childhood, GSD type III causes relatively severe fasting intolerance, classically associated with ketotic hypoglycaemia. During follow up, history of (documented) hypoglycaemia, clinical parameters (growth, liver size, motor development, neuromusc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df2125729642ba1f99e67e220e0e426
https://research.rug.nl/en/publications/16537daa-85ab-45e1-b466-f5589718d2e0

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