menu

92 results

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

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD

PloS one

doi: 10.1371/journal.pone.0180463

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME

Fertility and sterility, 2017 07

doi: 10.1016/j.fertnstert.2017.05.013

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Vaz FM, Bootsma AH, Kulik W, Verrips A, Wevers RA, Schielen PC, DeBarber AE, Huidekoper HH

Journal of lipid research, 2017 05

doi: 10.1194/jlr.P075051

Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Vaz FM, Huidekoper HH, Paulusma CC

Digestive diseases (Basel, Switzerland), 2017

doi: 10.1159/000450984