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132 resultaten

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME,

European journal of neurology, 2024 Aug 28

doi: 10.1111/ene.16397

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.

Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM, , Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S

Molecular genetics and metabolism, 2024 Jul 19

doi: S1096-7192(24)00426-8

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.

Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG

Liver international : official journal of the International Association for the Study of the Liver, 2024 Jul 16

doi: 10.1111/liv.16027

Screening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia.

Schreuder AB, Overduin RJ, Peltenburg NC, de Boer L, Bodewes FAJA, Derks TGJ

JIMD reports, 2024 Jul

doi: 10.1002/jmd2.12414

Quality of life in children with erythropoietic protoporphyria: a case-control study.

Kluijver LG, Wensink D, Wagenmakers MAEM, Huidekoper HH, Witters P, Rymen D, Langendonk JG

The Journal of dermatology, 2024 Jun 26

doi: 10.1111/1346-8138.17348

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Balfoort BM, Van Den Broeck F, Brands MM, van Karnebeek CD, Bergen AA, van den Born LI, Houtkooper RH, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Boon CJF, Diederen RMH

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2024 Jun 07

doi: 10.1007/s00417-024-06540-8

The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria; a multicentre cohort study.

Kluijver LG, Nekouei Shahraki M, Wagenmakers MAEM, Hanssen BE, Kuerten V, Schelonke K, Homey B, Langendonk JG

The British journal of dermatology, 2024 Apr 18

doi: 10.1093/bjd/ljae148

Homocysteine and methylmalonic acid in Phenylketonuria patients.

Hoss GRW, Sperb-Ludwig F, Tonon T, Poloni S, Behringer S, Blom HJ, Maillot F, Schwartz IVD

Genetics and molecular biology, 2024

doi: 10.1590/1678-4685-GMB-2023-0103

Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.

Oliva C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado M, Ormazabal A, Artuch R

Clinical chemistry and laboratory medicine, 2024 Mar 11

doi: 10.1515/cclm-2023-1291

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Liepina L, Smith DEC, Huidekoper H, Zeidler S, Wamelink M, de Wit MC, Wilke M, Ruijter G, Bierau J, Blom HJ

JIMD reports, 2024 Mar

doi: 10.1002/jmd2.12409

Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.

Lika A, Andrinopoulou ER, van der Beek NAME, Rizopoulos D, van der Ploeg AT, Kruijshaar ME

European journal of neurology, 2024 Feb 20

doi: 10.1111/ene.16223

Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report.

Chorley AJ, Terkivatan T, de Jonge J, Polak WG, Tran KTC, Unkhoff C, den Hoed CM, Wagenmakers MAEM, Ijzermans JNM, Minnee RC, Boehnert MU

Translational gastroenterology and hepatology, 2024

doi: 10.21037/tgh-23-55