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92 results

Bone mineral density is within normal range in most adult phenylketonuria patients.

Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM

Journal of inherited metabolic disease, 2020 Mar

doi: 10.1002/jimd.12177

Heme as an initial treatment for severe decompensation in tyrosinemia type 1.

Neeleman RA, Wilson JHP, Williams M, Langendonk JG

Genetics in medicine : official journal of the American College of Medical Genetics, 2020 02

doi: 10.1038/s41436-019-0658-z

Effect of BTD gene variants on in vitro biotinidase activity.

Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD

Molecular genetics and metabolism, 2019 08

doi: 10.1016/j.ymgme.2019.07.006

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ

Journal of inherited metabolic disease, 2019 09

doi: 10.1002/jimd.12147

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT

Orphanet journal of rare diseases, 2019 04 27

doi: 10.1186/s13023-019-1047-z

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G

JIMD reports, 2019

doi: 10.1007/8904_2018_148

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A

Neurology, 2019 01 08

doi: 10.1212/WNL.0000000000006731

Persistent metabolic changes in HIV-infected patients during the first year of combination antiretroviral therapy.

Peltenburg NC, Schoeman JC, Hou J, Mora F, Harms AC, Lowe SH, Bierau J, Bakker JA, Verbon A, Hankemeier T, Boonstra A

Scientific reports, 2018 11 16

doi: 10.1038/s41598-018-35271-0

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L

Scientific reports, 2018 Oct 18

doi: 10.1038/s41598-018-33457-0

Cytokines levels in late-diagnosed Classical Homocystinuria patients.

Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD

Molecular genetics and metabolism reports, 2018 Dec

doi: 10.1016/j.ymgmr.2018.09.003

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.

Huijbregts SCJ, Bosch AM, Simons QA, Jahja R, Brouwers MCGJ, De Sonneville LMJ, De Vries MC, Hofstede FC, Hollak CEM, Janssen MCH, Langendonk JG, Rubio-Gozalbo ME, Van der Meere JJ, Van der Ploeg AT, Van Spronsen FJ

Molecular genetics and metabolism, 2018 09

doi: 10.1016/j.ymgme.2018.07.002

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.

Haskovic M, Poot WJ, van Golde RJT, Benneheij SH, Oussoren E, de Wert GMWR, Krumeich A, Rubio-Gozalbo ME

Journal of inherited metabolic disease, 2018 09

doi: 10.1007/s10545-018-0179-y