-
Je něco špatně v tomto záznamu ?
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
P. Forny, F. Hörster, D. Ballhausen, A. Chakrapani, KA. Chapman, C. Dionisi-Vici, M. Dixon, SC. Grünert, S. Grunewald, G. Haliloglu, M. Hochuli, T. Honzik, D. Karall, D. Martinelli, F. Molema, JO. Sass, S. Scholl-Bürgi, G. Tal, M. Williams, M....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, směrnice pro lékařskou praxi, práce podpořená grantem
PubMed
33595124
DOI
10.1002/jimd.12370
Knihovny.cz E-zdroje
- MeSH
- lidé MeSH
- management nemoci MeSH
- propionová acidemie diagnóza terapie MeSH
- vrozené poruchy metabolismu aminokyselin diagnóza terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- směrnice pro lékařskou praxi MeSH
Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re-evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well-informed decisions in the context of MMA and PA patient care.
Department of Paediatrics Landeskrankenhaus Bregenz Bregenz Austria
Dietetics Great Ormond Street Hospital for Children NHS Foundation Trust London UK
Division of Neuropediatrics and Metabolic Medicine University Hospital Heidelberg Heidelberg Germany
Metabolic Unit Ruth Rappaport Children's Hospital Rambam Health Care Campus Haifa Israel
Rare Disease Institute Children's National Health System Washington District of Columbia USA
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc22004409
- 003
- CZ-PrNML
- 005
- 20220127145257.0
- 007
- ta
- 008
- 220113s2021 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1002/jimd.12370 $2 doi
- 035 __
- $a (PubMed)33595124
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Forny, Patrick $u Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland
- 245 10
- $a Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision / $c P. Forny, F. Hörster, D. Ballhausen, A. Chakrapani, KA. Chapman, C. Dionisi-Vici, M. Dixon, SC. Grünert, S. Grunewald, G. Haliloglu, M. Hochuli, T. Honzik, D. Karall, D. Martinelli, F. Molema, JO. Sass, S. Scholl-Bürgi, G. Tal, M. Williams, M. Huemer, MR. Baumgartner
- 520 9_
- $a Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re-evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well-informed decisions in the context of MMA and PA patient care.
- 650 _2
- $a vrozené poruchy metabolismu aminokyselin $x diagnóza $x terapie $7 D000592
- 650 _2
- $a management nemoci $7 D019468
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a propionová acidemie $x diagnóza $x terapie $7 D056693
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a směrnice pro lékařskou praxi $7 D017065
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Hörster, Friederike $u Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany
- 700 1_
- $a Ballhausen, Diana $u Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland
- 700 1_
- $a Chakrapani, Anupam $u Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK
- 700 1_
- $a Chapman, Kimberly A $u Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA
- 700 1_
- $a Dionisi-Vici, Carlo $u Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy
- 700 1_
- $a Dixon, Marjorie $u Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- 700 1_
- $a Grünert, Sarah C $u Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany
- 700 1_
- $a Grunewald, Stephanie $u Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK
- 700 1_
- $a Haliloglu, Goknur $u Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey
- 700 1_
- $a Hochuli, Michel $u Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland
- 700 1_
- $a Honzik, Tomas $u Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
- 700 1_
- $a Karall, Daniela $u Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Martinelli, Diego $u Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy
- 700 1_
- $a Molema, Femke $u Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 700 1_
- $a Sass, Jörn Oliver $u Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany
- 700 1_
- $a Scholl-Bürgi, Sabine $u Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria
- 700 1_
- $a Tal, Galit $u Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel
- 700 1_
- $a Williams, Monique $u Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
- 700 1_
- $a Huemer, Martina $u Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland $u Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria
- 700 1_
- $a Baumgartner, Matthias R $u Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland
- 773 0_
- $w MED00002747 $t Journal of inherited metabolic disease $x 1573-2665 $g Roč. 44, č. 3 (2021), s. 566-592
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/33595124 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y p $z 0
- 990 __
- $a 20220113 $b ABA008
- 991 __
- $a 20220127145254 $b ABA008
- 999 __
- $a ok $b bmc $g 1751774 $s 1155558
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2021 $b 44 $c 3 $d 566-592 $e 20210309 $i 1573-2665 $m Journal of inherited metabolic disease $n J Inherit Metab Dis $x MED00002747
- LZP __
- $a Pubmed-20220113
