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Jan Huijmans

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van der Schoor Sophie R D; Wattimena Darcos L; Huijmans Jan; Vermes Andras; van Goudoever Johannes B
The gut takes nearly all: threonine kinetics in infants.
Tjiong H L; Fieren M W; Rietveld T; Wattimena J L; Schierbeek H; Huijmans J G M; Hop W C; Swart G R; van den Berg J W
Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acids.
Williams M; Huijmans J G M; Duran M; de Klerk J B C; van Maldegem B T; Poll-The B T
[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia]

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2007: van der Schoor Sophie R D; Wattimena Darcos L; Huijmans Jan; Vermes Andras; van Goudoever Johannes B
The gut takes nearly all: threonine kinetics in infants.
The American journal of clinical nutrition 2007;86(4):1132-8.
2007: Tjiong H L; Fieren M W; Rietveld T; Wattimena J L; Schierbeek H; Huijmans J G M; Hop W C; Swart G R; van den Berg J W
Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acids.
Kidney international 2007;72(3):364-9.
2007: Williams M; Huijmans J G M; Duran M; de Klerk J B C; van Maldegem B T; Poll-The B T
[Lactic acidosis and accumulation of glutamate in the blood of neonates following treatment with calcium levulinate for hypocalcaemia]
Nederlands tijdschrift voor geneeskunde 2007;151(21):1191-6.
2007: 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
Quantification of free and total sialic acid excretion by LC-MS/MS.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2007;848(2):251-7.
2007: Tjiong H L; Zijlstra F J; Rietveld T; Wattimena J L; Huijmans J G M; Swart G R; Fieren M W J A
Peritoneal protein losses and cytokine generation in automated peritoneal dialysis with combined amino acids and glucose solutions.
Mediators of inflammation 2007;2007():97272.
2006: Andressoo Jaan-Olle; Jans Judith; de Wit Jan; Coin Frederic; Hoogstraten Deborah; van de Ven Marieke; Toussaint Wendy; Huijmans Jan; Thio H Bing; van Leeuwen Wibeke J; de Boer Jan; Egly Jean-Marc; Hoeijmakers Jan H J; van der Horst Gijsbertus T J; Mitchell James R
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
PLoS biology 2006;4(10):e322.
2006: Kleijer Wim J; Garritsen Victor H; van der Sterre Marianne L T; Berning Christoph; Häberle Johannes; Huijmans Jan G M
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Prenatal diagnosis 2006;26(3):242-7.
2006: de Wit M C Y; de Coo I F M; Verbeek E; Schot R; Schoonderwoerd G C; Duran M; de Klerk J B C; Huijmans J G M; Lequin M H; Verheijen F W; Mancini G M S
Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.
Molecular genetics and metabolism 2006;87(2):102-6.
2005: Wiersinga W J; de Rooij S E J A; Huijmans J G M; Fischer C; Hoekstra J B L
[Diagnosis of vitamin B12 deficiency revised]
Nederlands tijdschrift voor geneeskunde 2005;149(50):2789-94.
2005: Verwijnen Suzanne M; Krenning Eric P; Valkema Roelf; Huijmans Jan G M; de Jong Marion
Oral versus intravenous administration of lysine: equal effectiveness in reduction of renal uptake of [111In-DTPA]octreotide.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2005;46(12):2057-60.
2005: te Braake Frans W J; van den Akker Chris H P; Wattimena Darcos J L; Huijmans Jan G M; van Goudoever Johannes B
Amino acid administration to premature infants directly after birth.
The Journal of pediatrics 2005;147(4):457-61.
2005: 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
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.
Annals of surgery 2005;241(4):599-606.
2005: Mancini G M S; Catsman-Berrevoets C E; de Coo I F M; Aarsen F K; Kamphoven J H J; Huijmans J G; Duran M; van der Knaap M S; Jakobs C; Salomons G S
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
American journal of medical genetics. Part A 2005;132A(3):288-95.
2004: Damen Gerard; de Klerk Hans; Huijmans Jan; den Hollander Jan; Sinaasappel Maarten
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
Journal of pediatric gastroenterology and nutrition 2004;38(3):282-7.
2004: Valianpour Fredoen; Abeling Nicolaas G G M; Duran Marinus; Huijmans Jan G M; Kulik Willem
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
Clinical chemistry 2004;50(2):403-9.
2002: Keulemans J L M; Sinigerska I; Garritsen V H; Huijmans J G M; Voznyi Y V; van Diggelen O P; Kleijer W J
Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay.
Prenatal diagnosis 2002;22(11):1016-21.
2002: Kleijer W J; Garritsen V H; Linnebank M; Mooyer P; Huijmans J G M; Mustonen A; Simola K O J; Arslan-Kirchner M; Battini R; Briones P; Cardo E; Mandel H; Tschiedel E; Wanders R J A; Koch H G
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Journal of inherited metabolic disease 2002;25(5):399-410.
2002: de Boer Jan; Andressoo Jaan Olle; de Wit Jan; Huijmans Jan; Beems Rudolph B; van Steeg Harry; Weeda Geert; van der Horst Gijsbertus T J; van Leeuwen Wibeke; Themmen Axel P N; Meradji Morteza; Hoeijmakers Jan H J
Premature aging in mice deficient in DNA repair and transcription.
Science (New York, N.Y.) 2002;296(5571):1276-9.
2001: Mancini G M; van Diggelen O P; Huijmans J G; Stroink H; de Coo R F
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Neuropediatrics 2001;32(1):38-40.
2000: Schollen E; Dorland L; de Koning T J; Van Diggelen O P; Huijmans J G; Marquardt T; Babovic-Vuksanovic D; Patterson M; Imtiaz F; Winchester B; Adamowicz M; Pronicka E; Freeze H; Matthijs G
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Human mutation 2000;16(3):247-52.
2000: Huijmans J G; Duran M; de Klerk J B; Rovers M J; Scholte H R
Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.
Pediatrics 2000;106(3):596-600.
2000: van den Ouweland J M; de Klerk J B; van de Corput M P; Dirks R W; Raap A K; Scholte H R; Huijmans J G; Hart L M; Bruining G J; Maassen J A
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
European journal of human genetics : EJHG 2000;8(3):195-203.
2000: Kleijer W J; Geilen G C; Garritsen V; Huijmans J G; Los F J; Voznyi Y V; van Diggelen O P
First-trimester diagnosis of Morquio disease type A.
Prenatal diagnosis 2000;20(3):183-5.
2000: Palmeri S; Villanova M; Malandrini A; van Diggelen O P; Huijmans J G; Ceuterick C; Rufa A; DeFalco D; Ciacci G; Martin J J; Guazzi G
Type I sialidosis: a clinical, biochemical and neuroradiological study.
European neurology 2000;43(2):88-94.
1999: Mancini G M; Stojanov L; Willemsen R; Kleijer W J; Huijmans J G; van Diggelen O P; de Klerk J B; Vuzevski V D; Oranje A P
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients.
Dermatology (Basel, Switzerland) 1999;198(1):18-25.
1998: Artan R; van Diggelen O P; Huijmans J G
Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy.
Journal of inherited metabolic disease 1998;21(4):437-8.
1998: Tylki-Szymanska A; Czartoryska B; Bunge S; van Diggelen O P; Kleijer W J; Poorthuis B J; Huijmans J G; Górska D
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
Clinical genetics 1998;53(5):369-74.
1998: Buyukgebiz B; Jakobs C; Scholte H R; Huijmans J G; Kleijer W J
Fatal neonatal malonic aciduria.
Journal of inherited metabolic disease 1998;21(1):76-7.
1997: de Klerk J B; Huijmans J G; Stroink H; Robben S G; Jakobs C; Duran M
L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.
Neuropediatrics 1997;28(6):314-7.
1997: Wanders R J; Vilarinho L; Hartung H P; Hoffmann G F; Mooijer P A; Jansen G A; Huijmans J G; de Klerk J B; ten Brink H J; Jakobs C; Duran M
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.
Journal of inherited metabolic disease 1997;20(5):725-6.
1996: Coker M; Duran M; De Klerk J B; Kleijer W J; Jakobs C; Huijmans J G
Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia.
Prenatal diagnosis 1996;16(10):941-4.
1996: Kleijer W J; Karpova E A; Geilen G C; Keulemans J L; Huijmans J G; Tsvetkova I V; Voznyi YaV; van Diggelen O P
Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.
Prenatal diagnosis 1996;16(9):829-35.
1996: Kliffen M; Mooy C M; Luider T M; Huijmans J G; Kerkvliet S; de Jong P T
Identification of glycosaminoglycans in age-related macular deposits.
Archives of ophthalmology 1996;114(8):1009-14.
1996: Kornelisse R F; Hoekman K; Visser J J; Hop W C; Huijmans J G; van der Straaten P J; van der Heijden A J; Sukhai R N; Neijens H J; de Groot R
The role of nitric oxide in bacterial meningitis in children.
The Journal of infectious diseases 1996;174(1):120-6.
1996: de Klerk J B; Duran M; Huijmans J G; Mancini G M
Sudden infant death and lysinuric protein intolerance.
European journal of pediatrics 1996;155(3):256-7.
1996: Kist-van Holthe tot Echten J; Huijmans J G; Hop W C; Monnens L A; de Jong M C; Noordzij C M; Slotema R; Nauta J; Wolff E D
Intracellular amino acid concentrations in children with chronic renal insufficiency.
Pediatric nephrology (Berlin, Germany) 1996;10(1):46-50.
1996: Coker M; de Klerk J B; Poll-The B T; Huijmans J G; Duran M
Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.
Journal of inherited metabolic disease 1996;19(6):743-51.
1995: Van Goudoever J B; Colen T; Wattimena J L; Huijmans J G; Carnielli V P; Sauer P J
Immediate commencement of amino acid supplementation in preterm infants: effect on serum amino acid concentrations and protein kinetics on the first day of life.
The Journal of pediatrics 1995;127(3):458-65.
1995: Kleijer W J; van der Kraan M; Huijmans J G; van den Heuvel C M; Jakobs C
Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters.
Prenatal diagnosis 1995;15(6):527-33.
1994: Van Goudoever J B; Sulkers E J; Timmerman M; Huijmans J G; Langer K; Carnielli V P; Sauer P J
Amino acid solutions for premature neonates during the first week of life: the role of N-acetyl-L-cysteine and N-acetyl-L-tyrosine.
JPEN. Journal of parenteral and enteral nutrition 1994;18(5):404-8.
1994: He W; Voznyi YaV; Huijmans J G; Geilen G C; Karpova E A; Dudukina T V; Zaremba J; Van Diggelen O P; Kleijer W J
Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.
Prenatal diagnosis 1994;14(1):17-22.
1992: Zaremba J; Kleijer W J; Huijmans J G; Poorthuis B; Fidzianska E; Glogowska I
Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.
Journal of medical genetics 1992;29(7):514.
1992: Scholte H R; Ross J D; Blom W; Boonman A M; van Diggelen O P; Hall C L; Huijmans J G; Luyt-Houwen I E; Kleijer W J; de Klerk J B
Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.
Journal of inherited metabolic disease 1992;15(3):347-52.
1990: Zhao H; Van Diggelen O P; Thoomes R; Huijmans J; Young E; Mazurczak T; Kleijer W J
Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.
Prenatal diagnosis 1990;10(2):85-91.
1990: Kleijer W J; Hu P; Thoomes R; Boer M; Huijmans J G; Blom W; Van Diggelen O P; Seemanova E; Macek M
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Journal of inherited metabolic disease 1990;13(6):867-72.
1990: Blom W; Polder-Mol A C; Kelholt-Dijkman H H; Hierck L; Huijmans J G
The detection of abnormal metabolites in MCAD deficiency: a new method.
Journal of inherited metabolic disease 1990;13(3):315-20.
1989: Blom W; Huijmans J G; van den Berg G B
A clinical biochemist's view of the investigation of suspected inherited metabolic disease.
Journal of inherited metabolic disease 1989;12 Suppl 1():64-88.
1988: Huijmans J G; Degenharg H J; Kortleve D J
Effect of 25-hydroxy-cholesterol on the uptake of corticosterone in isolated rat liver cells.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 1988;20(1):28-31.
1988: van Diggelen O P; Schindler D; Willemsen R; Boer M; Kleijer W J; Huijmans J G; Blom W; Galjaard H
alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.
Journal of inherited metabolic disease 1988;11(4):349-57.
1986: Blom W; van den Berg G B; Huijmans J G; Przyrembel H; Fernandes J; Scholte H R; Sanders-Woudstra J A
Neurologic action of megadoses of vitamins.
Bibliotheca nutritio et dieta 1986;(38):120-35.
1985: de Zegher F; Przyrembel H; Chalmers R A; Wolff E D; Huijmans J G
Successful treatment of infantile type I primary hyperoxaluria complicated by pyridoxine toxicity.
Lancet 1985;2(8451):392-3.
1985: Wladimiroff J W; Niermeijer M F; Van der Harten J J; Stewart P A; Versteegh F G; Blom W; Huijmans J G
Early prenatal diagnosis of congenital hypophosphatasia: case report.
Prenatal diagnosis 1985;5(1):47-52.
1985: Blom W; van den Berg G B; Huijmans J G; Sanders-Woudstra J A
Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.
Journal of inherited metabolic disease 1985;8 Suppl 2():107-8.
1984: Kleijer W J; Blom W; Huijmans J G; Mooyman M C; Berger R; Niermeijer M F
Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies.
Prenatal diagnosis 1984;4(2):113-8.
1984: Huijmans J G; Falke H E; Degenhart H J
Effects of some hydroxylated sterols on the steroid production in isolated rat adrenal glomerulosa and fasciculata/reticularis cells in the presence of potassium, angiotensin II or ACTH.
Acta endocrinologica 1984;105(3):411-6.
1984: Kleijer W J; Huijmans J G; Blom W; Gorska D; Kubalska J; Walasek M; Zaremba J
Prenatal diagnosis of Sanfilippo disease type B.
Human genetics 1984;66(4):287-8.
1983: Blom W; Luteyn J C; Kelholt-Dijkman H H; Huijmans J G; Loonen M C
Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).
Clinica chimica acta; international journal of clinical chemistry 1983;134(1-2):221-7.
1983: van der Horst G T; Kleijer W J; Hoogeveen A T; Huijmans J G; Blom W; van Diggelen O P
Morquio B syndrome: a primary defect in beta-galactosidase.
American journal of medical genetics 1983;16(2):261-75.
1983: Carpentier P J; Kurth K H; Blom W; Huijmans J G
Heterozygous cystinuria and calcium oxalate urolithiasis.
The Journal of urology 1983;130(2):302-4.
1982: Huijmans J G; Degenhart H J; Kortleve D J
Conversion of 22S-hydroxy-cholesterol and its effects on the metabolism of other sterols in rat adrenal cells and bovine adrenal mitochondria.
Acta endocrinologica 1982;100(4):599-605.
1981: Huijmans J G; Degenhart H J; Kortleve D J; Visser H K
Effects of 22S-hydroxy-cholesterol and other hydroxylated sterols on the ACTH-stimulated steroid production in rat adrenal cells.
Acta endocrinologica 1981;97(2):243-50.

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Jan Huijmans

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