menu

132 results

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

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells.

Esse R, Teerlink T, Koolwijk P, Tavares de Almeida I, Blom HJ, Castro R

Nutrients, 2018 Mar 24

doi: 10.3390/nu10040404

The Dilemma of Two Innovative Therapies for Spinal Muscular Atrophy.

van der Ploeg AT

The New England journal of medicine, 2017 11 02

doi: 10.1056/NEJMe1712106

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A

Journal of inherited metabolic disease, 2018 07

doi: 10.1007/s10545-017-0086-7

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

Poloni S, Spritzer PM, Mendes RH, D'Almeida V, Castro K, Sperb-Ludwig F, Kugele J, Tucci S, Blom HJ, Schwartz IVD

Clinica chimica acta; international journal of clinical chemistry, 2017 Oct

doi: 10.1016/j.cca.2017.08.005

Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ

Frontiers in molecular biosciences, 2017

doi: 10.3389/fmolb.2017.00053

Paediatric reference values for total homocysteine, tryptophan, tyrosine and phenylalanine in blood spots.

Bergwerff CE, Luman M, Blom HJ, Oosterlaan J

Scandinavian journal of clinical and laboratory investigation, 2017 Oct

doi: 10.1080/00365513.2017.1334167

Crystal clear cerebral ultrasound images mimicking acute asphyxia in an infant with primary hyperoxaluria.

Ardemani G, Govaert P, Oussoren E, Dorresteijn E, Wildschut E, Lequin M, Dudink J

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017 Sep

doi: 10.1016/j.ejpn.2017.06.003

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ

Journal of inherited metabolic disease, 2017 07

doi: 10.1007/s10545-017-0060-4