Publications by authors named "Jan Huijmans"

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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo

Am J Med Genet A· June 2017

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Black discolouration of urine in two young sisters.
Tine Martens, Adriaan J van Gammeren, Jan G M Huijmans, Stella A de Man

J Paediatr Child Health· June 2016

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Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
Judith M A Verhagen, Jan G Huijmans, Monique Williams, Rutger L J van Ruyven, Arthur A B Bergen

Am J Med Genet A· November 2012

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The live-birth prevalence of mucopolysaccharidoses in Estonia.
Külliki Krabbi, Kairit Joost, Riina Zordania, Inga Talvik, Reet Rein, Jan G M Huijmans

Genet Test Mol Biomarkers· August 2012

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Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.
Wim Sluiter, Jeroen C van den Bosch, Daphne A Goudriaan, Carin M van Gelder, Juna M de Vries, Jan G M Huijmans

Clin Chem· July 2012

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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.
Jiddeke M van de Kamp, Petra J W Pouwels, Femke K Aarsen, Leontine W ten Hoopen, Dirk L Knol, Jan G M Huijmans

J Inherit Metab Dis· January 2012

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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
Jeroen van den Bosch, Linda F Oemardien, Malgorzata I Srebniak, Monique Piraud, Jan G M Huijmans

J Inherit Metab Dis· October 2011

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High-dose cysteine administration does not increase synthesis of the antioxidant glutathione preterm infants.
Frans W J te Braake, Henk Schierbeek, Andras Vermes, Jan G M Huijmans, Johannes B van Goudoever

Pediatrics· November 2009

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The gut takes nearly all: threonine kinetics in infants.
Sophie R D van der Schoor, Darcos L Wattimena, Jan Huijmans, Andras Vermes, Johannes B van Goudoever

Am J Clin Nutr· October 2007

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Quantification of free and total sialic acid excretion by LC-MS/MS.
Maria van der Ham, Berthil H C M T Prinsen, Jan G M Huijmans, Nicolaas G G M Abeling, Bert Dorland

J Chromatogr B Analyt Technol Biomed Life Sci· April 2007

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
Jaan-Olle Andressoo, Judith Jans, Jan de Wit, Frederic Coin, Deborah Hoogstraten, Jan Huijmans

PLoS Biol· October 2006

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Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Wim J Kleijer, Victor H Garritsen, Marianne L T van der Sterre, Christoph Berning, Johannes Häberle, Jan G M Huijmans

Prenat Diagn· March 2006

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Oral versus intravenous administration of lysine: equal effectiveness in reduction of renal uptake of [111In-DTPA]octreotide.
Suzanne M Verwijnen, Eric P Krenning, Roelf Valkema, Jan G M Huijmans, Marion de Jong

J Nucl Med· December 2005

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Amino acid administration to premature infants directly after birth.
Frans W J te Braake, Chris H P van den Akker, Darcos J L Wattimena, Jan G M Huijmans, Johannes B van Goudoever

J Pediatr· October 2005

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Glutamine supplementation of parenteral nutrition does not improve intestinal permeability, nitrogen balance, or outcome in newborns and infants undergoing digestive-tract surgery: results from a double-blind, randomized, controlled trial.
Marcel J I J Albers, Ewout W Steyerberg, Frans W J Hazebroek, Marjan Mourik, Gerard J J M Borsboom, Jan G M Huijmans

Ann Surg· April 2005

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Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
Gerard Damen, Hans de Klerk, Jan Huijmans, Jan den Hollander, Maarten Sinaasappel

J Pediatr Gastroenterol Nutr· March 2004

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Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
Fredoen Valianpour, Nicolaas G G M Abeling, Marinus Duran, Jan G M Huijmans, Willem Kulik

Clin Chem· February 2004

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Premature aging in mice deficient in DNA repair and transcription.
Jan de Boer, Jaan Olle Andressoo, Jan de Wit, Jan Huijmans, Rudolph B Beems

Science· May 2002

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