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Journal of inherited metabolic disease |
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GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
Souza PVS, Badia BML, Farias IB, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes Type de document : Article Auteurs : Souza PVS ; Badia BML ; Farias IB ; Pinto WBVR ; Oliveira ASB ; Akman HO ; DiMauro S Editeur : United States Année de publication : 03/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33141444 / DOI : 10.1002/jimd.12325
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33141444 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients
Poelman E, van den Dorpel J, Hoogeveen-Westerveld M, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients Type de document : Article Auteurs : Poelman E ; van den Dorpel J ; Hoogeveen-Westerveld M ; van den Hout J ; van der Giessen LJ ; van der Beek N ; Pijnappel W ; van der Ploeg AT Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32506446 / DOI : 10.1002/jimd.12268
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32506446 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Subclinical effects of long-chain fatty acid beta-oxidation deficiency on the adult heart: A case-control magnetic resonance study
Knottnerus SJG, Bleeker JC, Ferdinandusse S, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : Subclinical effects of long-chain fatty acid beta-oxidation deficiency on the adult heart: A case-control magnetic resonance study Type de document : Article Auteurs : Knottnerus SJG ; Bleeker JC ; Ferdinandusse S ; Houtkooper RH ; Langeveld M ; Nederveen AJ ; Strijkers GJ ; Visser G ; Wanders RJA ; Wijburg FA ; Boekholdt SM ; Bakermans AJ Editeur : United States Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32463482 / DOI : 10.1002/jimd.12266
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32463482 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Ethnic Variability in Newborn Metabolic Screening Markers Associated with False-Positive Outcomes
Peng G, Tang Y, Gandotra N, et al.
Journal of inherited metabolic disease, 2020
Revue : Journal of inherited metabolic disease Titre : Ethnic Variability in Newborn Metabolic Screening Markers Associated with False-Positive Outcomes Type de document : Article Auteurs : Peng G, Auteur ; Tang Y ; Gandotra N ; Enns GM ; Cowan TM ; Zhao H ; Scharfe C Editeur : United States Année de publication : 03/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32216101 / DOI : 10.1002/jimd.12236
N° Profil MNM : 2020032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32216101 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations
Rossi A, Hoogeveen IJ, Bastek VB, et al.
Journal of inherited metabolic disease, 2020
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Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study
Lokken N, Hansen KK, Storgaard JH, et al.
Journal of inherited metabolic disease, 2020
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Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency
Bleeker JC, Visser G, Clarke K, et al.
Journal of inherited metabolic disease, 2020
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A high prevalence of arterial hypertension in patients with mitochondrial diseases
Chong-Nguyen C, Stalens C, Goursot Y, et al.
Journal of inherited metabolic disease, 2019
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Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures
Khan AA, Boggs T, Bowling M, et al.
Journal of inherited metabolic disease, 2019
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Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Bleeker JC, Bleeker JC, Kok IL, et al.
Journal of inherited metabolic disease, 2019, 42, 3, p 414
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AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency
Zieger M, Keeler AM, Flotte TR, et al.
Journal of inherited metabolic disease, 2019
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Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Echaniz-Laguna A, Nadjar Y, Behin A, et al.
Journal of inherited metabolic disease, 2019
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Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency
Bleeker JC, Bleeker JC, Kok IL, et al.
Journal of inherited metabolic disease, 2019, 42, 1, p 159
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The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: A systematic review
Joanne M, Milverton J, Newton S, et al.
Journal of inherited metabolic disease, 2019, 42, 1, p 57
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The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD)
Hesse J, Braun C, Behringer S, et al.
Journal of inherited metabolic disease, 2018, 41, 6, p 1169
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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
Semplicini C, Semplicini C, Letard P, et al.
Journal of inherited metabolic disease, 2018
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Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
Koene S, Koene S, van Bon L, et al.
Journal of inherited metabolic disease, 2018
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The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
Milverton J, Milverton J, Newton S, et al.
Journal of inherited metabolic disease, 2018
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Role of continuous glucose monitoring in the management of glycogen storage disorders
Herbert M, Pendyal S, Rairikar M, et al.
Journal of inherited metabolic disease, 2018
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Dental and periodontal manifestations of glycogen storage diseases: a case series of 60 patients
Biosse Duplan M, Hubert A, Le Norcy E, et al.
Journal of inherited metabolic disease, 2018
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Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
van der Meijden JC, Kruijshaar ME, Harlaar L, et al.
Journal of inherited metabolic disease, 2018
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Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up
Gungor D, Kruijshaar ME, Plug I, et al.
Journal of inherited metabolic disease, 2016, 39, 2, p 253
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Effects of a higher dose of alglucosidase alfa on ventilator-free survival and motor outcome in classic infantile Pompe disease: an open-label single-center study
van Gelder CM, Poelman E, Plug I, et al.
Journal of inherited metabolic disease, 2016, 39, 3, p 383
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Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience
Jaeger B, Bosch AM
Journal of inherited metabolic disease, 2016, 39, 4, p 559
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