Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect von van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.

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

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Quantification of free and total sialic acid excretion by LC–MS/MS von van der Ham, Maria, Prinsen, Berthil H.C.M.T., Huijmans, Jan G.M., Abeling, Nicolaas G.G.M., Dorland, Bert, Berger, Ruud, de Koning, Tom J., de Sain-van der Velden, Monique G.M.

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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 Disea... von SLUITER, Wim, VAN DEN BOSCH, Jeroen C, GOUDRIAAN, Daphne A, GELDER, Carin M. Van, VRIES, Juna M. De, HUIJMANS, Jan G. M, REUSER, Arnold J. J, VAN DER PLOEG, Ans T, RUIJTER, George J. G

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High-Dose Cysteine Administration Does Not Increase Synthesis of the Antioxidant Glutathione Preterm Infants von te Braake, Frans W.J, Schierbeek, Henk, Vermes, Andras, Huijmans, Jan G.M, van Goudoever, Johannes B

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

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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... von ALBERS, Marcel J. I. J, STEYERBERG, Ewout W, HAZEBROEK, Frans W. J, MOURIK, Marjan, BORSBOOM, Gerard J. J. M, RIETVELD, Trinet, HUIJMANS, Jan G. M, TIBBOEL, Dick

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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene von Huijmans, Jan G. M., Schot, Rachel, de Klerk, Johannis B. C., Williams, Monique, de Coo, René F. M., Duran, Marinus, Verheijen, Frans W., van Slegtenhorst, Marjon, Mancini, Grazia M. S.

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Amino Acid Administration to Premature Infants Directly After Birth von te Braake, Frans W.J., van den Akker, Chris H.P., Wattimena, Darcos J.L., Huijmans, Jan G.M., van Goudoever, Johannes B.

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

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Functional Hyperactivity of Hepatic Glutamate Dehydrogenase as a Cause of the Hyperinsulinism/Hyperammonemia Syndrome: Effect of Treatment von Huijmans, Jan G. M, Duran, Marinus, de Klerk, Johannis B. C, Rovers, Marinus J, Scholte, Hans R

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The live-birth prevalence of mucopolysaccharidoses in Estonia von Krabbi, Külliki, Joost, Kairit, Zordania, Riina, Talvik, Inga, Rein, Reet, Huijmans, Jan G M, Verheijen, Frans V, Õunap, Katrin

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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 von Valianpour, Fredoen, Abeling, Nicolaas G.G.M, Duran, Marinus, Huijmans, Jan G.M, Kulik, Willem

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Oral Versus Intravenous Administration of Lysine: Equal Effectiveness in Reduction of Renal Uptake of [111In-DTPA]Octreotide von Verwijnen, Suzanne M, Krenning, Eric P, Valkema, Roelf, Huijmans, Jan G.M, de Jong, Marion

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Clinical, biochemical and molecular findings in a two-generation Morquio A family von Tylki-Szymańska, Anna, Czartoryska, Barbara, Bunge, Susanna, van Diggelen, Otto P, Kleijer, Wim J, Poor-trims, Ben JHM, Huijmans, Jan GM, Górska, Danuta

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Intracellular amino acid concentrations in children with chronic renal insufficiency von KIST-VAN HOLTHE TOT ECHTEN, J. E, HUIJMANS, J. G. M, HOP, W. C. J, MONNENS, L. A. H, DE JONG, M. C. J. W, NOORDZIJ, C. M, SLOTEMA, R, NAUTA, J, WOLFF, E. D

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Premature Aging in Mice Deficient in DNA Repair and Transcription von de Boer, Jan, Andressoo, Jaan Olle, de Wit, Jan, Huijmans, Jan, Beems, Rudolph B., van Steeg, Harry, Weeda, Geert, Gijsbertus T. J. van der Horst, van Leeuwen, Wibeke, Axel P. N. Themmen, Meradji, Morteza, Jan H. J. Hoeijmakers

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Morquio B syndrome: A primary defect in β-galactosidase von van der Horst, Gijsbertus T. J., Kleijer, Wim J., Hoogeveen, André T., Huijmans, Jan G. M., Blom, Wim, van Diggelen, Otto P.

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Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic von Damen, Gerard, de Klerk, Hans, Huijmans, Jan, den Hollander, Jan, Sinaasappel, Maarten

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Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4 von Verhagen, Judith M.A., Huijmans, Jan G., Williams, Monique, van Ruyven, Rutger L.J., Bergen, Arthur A.B., Wouters, Cokkie H., Brooks, Alice S.

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