J. Huijmans

发表

α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

H. Galjaard, D. Schindler, W. Kleijer, 1988, Journal of Inherited Metabolic Disease.

Rescue of Progeria in Trichothiodystrophy by Homozygous Lethal Xpd Alleles

J. Hoeijmakers, J. Jans, D. Hoogstraten, 2006, PLoS biology.

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

E. Steyerberg, D. Tibboel, G. Borsboom, 2005, Annals of surgery.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

C. Catsman-Berrevoets, F. Aarsen, M. Durán, 2005, American journal of medical genetics. Part A.

Oral versus intravenous administration of lysine: equal effectiveness in reduction of renal uptake of [111In-DTPA]octreotide.

R. Valkema, E. Krenning, M. de Jong, 2005, Journal of nuclear medicine : official publication, Society of Nuclear Medicine.

Pharmacokinetic, pharmacodynamic and intracellular effects of PEG-asparaginase in newly diagnosed childhood acute lymphoblastic leukemia: results from a single agent window study

M. D. Boer, R. Pieters, A. Veerman, 2008, Leukemia.

beta-Glucuronidase deficiency as a cause of fetal hydrops.

W. Kleijer, H. Kanhai, J. Huijmans, 1992, American journal of medical genetics.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

H. Mandel, R. Wanders, R. Battini, 2002, Journal of Inherited Metabolic Disease.

Immediate commencement of amino acid supplementation in preterm infants: effect on serum amino acid concentrations and protein kinetics on the first day of life.

P. Sauer, V. Carnielli, V. Carnielli, 1995, The Journal of pediatrics.

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

M. Durán, H. Scholte, J. D. de Klerk, 2000, Pediatrics.

Quantification of free and total sialic acid excretion by LC-MS/MS.

R. Berger, N. Abeling, T. D. de Koning, 2007, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Hyperinsulinism/Hyperammonemia Syndrome: Effect of Treatment Functional Hyperactivity of Hepatic Glutamate Dehydrogenase as a Cause of the

H. Scholte, J. Huijmans, M. Rovers, 2006 .

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism

M. Durán, J. Huijmans, B. Poll-The, 1996, Journal of Inherited Metabolic Disease.

AMNIOTIC FLUID ODD‐CHAIN FATTY ACIDS ARE INCREASED IN PROPIONIC ACIDAEMIA

M. Durán, W. Kleijer, C. Jakobs, 1996, Prenatal diagnosis.

Intracellular amino acid concentrations in children with chronic renal insufficiency

W. Hop, J. Nauta, L. Monnens, 1996, Pediatric Nephrology.

Amino acid solutions for premature neonates during the first week of life: the role of N-acetyl-L-cysteine and N-acetyl-L-tyrosine.

P. Sauer, V. Carnielli, J. V. van Goudoever, 1994, JPEN. Journal of parenteral and enteral nutrition.

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver

J. Verstegen, W. Kleijer, O. Diggelen, 1992, Journal of Inherited Metabolic Disease.

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients

H. Hartung, M. Durán, R. Wanders, 1997, Journal of Inherited Metabolic Disease.

High-Dose Cysteine Administration Does Not Increase Synthesis of the Antioxidant Glutathione Preterm Infants

J. V. van Goudoever, H. Schierbeek, J. Huijmans, 2009, Pediatrics.

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

M. Durán, F. Valianpour, N. Abeling, 2004, Clinical chemistry.

SUCCESSFUL TREATMENT OF INFANTILE TYPE I PRIMARY HYPEROXALURIA COMPLICATED BY PYRIDOXINE TOXICITY

R. Chalmers, F. Zegher, H. Przyrembel, 1985, The Lancet.

Heterozygous cystinuria and calcium oxalate urolithiasis.

K. Kurth, W. Blom, J. Huijmans, 1983, The Journal of urology.

The detection of abnormal metabolites in MCAD deficiency: a new method

W. Blom, J. Huijmans, A. C. Polder-Mol, 1990, Journal of Inherited Metabolic Disease.

A clinical biochemist's view of the investigation of suspected inherited metabolic disease

W. Blom, J. Huijmans, G. Berg, 1989, Journal of Inherited Metabolic Disease.

Early prenatal diagnosis of congenital hypophosphatasia: Case report

J. Wladimiroff, P. Stewart, F. Versteegh, 1985, Prenatal diagnosis.

Different effects of cycloheximide and chloramphenicol on corticosterone production by isolated rat adrenal cells

H. Falke, H. Degenhart, J. Huijmans, 1976, Molecular and Cellular Endocrinology.

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).

W. Blom, J. Huijmans, M. Loonen, 1983, Clinica chimica acta; international journal of clinical chemistry.

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS

M. Srebniak, F. Verheijen, G. Ruijter, 2011, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

A. Munnich, E. Bakker, P. Kamoun, 1995, American journal of medical genetics.

Prenatal diagnosis of citrullinemia: Elevated levels of citrulline in the amniotic fluid in the three affected pregnancies

W. Kleijer, M. Niermeijer, W. Blom, 1984, Prenatal diagnosis.

β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

W. Kleijer, O. Diggelen, W. Blom, 1990, Journal of Inherited Metabolic Disease.

The live-birth prevalence of mucopolysaccharidoses in Estonia.

K. Õunap, I. Talvik, R. Žordania, 2012, Genetic testing and molecular biomarkers.

Premature Aging in Mice Deficient in DNA Repair and Transcription

J. Hoeijmakers, H. van Steeg, R. Beems, 2002, Science.

Gastrointestinal and Other Clinical Manifestations in 17 Children With Congenital Disorders of Glycosylation Type Ia, Ib, and Ic

G. Damen, M. Sinaasappel, J. Huijmans, 2004, Journal of pediatric gastroenterology and nutrition.

[Diagnosis of vitamin B12 deficiency revised].

J. Hoekstra, W. Wiersinga, J. Huijmans, 2005, Nederlands tijdschrift voor geneeskunde.

Morquio B syndrome: a primary defect in β-galactosidase

W. Blom, A. Hoogeveen, W. Kleijer, 1983 .

Differential diagnosis of (inherited) amino acid metabolism or transport disorders

W. Blom, J. Huijmans, J. Huijmans, 1992, Amino Acids.

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

W. Kleijer, J. Zaremba, Wang He, 1994, Prenatal diagnosis.

Clinical, biochemical and molecular findings in a two‐generation Morquio A family

W. Kleijer, A. Tylki-Szymańska, S. Bunge, 1998, Clinical genetics.

EPIDEMIOLOGY AND RELATIVE INCIDENCE OF RARE NEUROMETABOLIC AND NEUROGENETIC DISORDERS IN IRAN

W. Kleijer, J. Huijmans, Y. Shafeghati, 2001 .

The gut takes nearly all: threonine kinetics in infants.

J. V. van Goudoever, S. V. D. van der Schoor, D. Wattimena, 2007, The American journal of clinical nutrition.

Peritoneal Protein Losses and Cytokine Generation in Automated Peritoneal Dialysis with Combined Amino Acids and Glucose Solutions

F. Zijlstra, G. Swart, M. Fieren, 2007, Mediators of inflammation.

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency.

M. Durán, M. Lequin, F. Verheijen, 2006, Molecular genetics and metabolism.

Fatal neonatal malonic aciduria

W. Kleijer, C. Jakobs, B. Buyukgebiz, 1998, Journal of Inherited Metabolic Disease.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG‐Ib)

H. Freeze, M. Patterson, G. Matthijs, 2000, Human mutation.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

D. Knol, F. Aarsen, P. Pouwels, 2011, Journal of Inherited Metabolic Disease.

Amino acid administration to premature infants directly after birth.

J. V. van Goudoever, C. V. D. van den Akker, D. Wattimena, 2005, The Journal of pediatrics.

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

M. Durán, G. Mancini, M. V. van Slegtenhorst, 2017, American journal of medical genetics. Part A.

Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4

A. Brooks, C. Wouters, J. Huijmans, 2012, American journal of medical genetics. Part A.

Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC.

B. Poorthuis, W. Kleijer, J. Zaremba, 1992, Journal of medical genetics.

Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.

W. Sluiter, A. T. van der Ploeg, G. Ruijter, 2012, Clinical chemistry.

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

J. Häberle, W. Kleijer, M. L. T. van der Sterre, 2006, Prenatal diagnosis.

Pitfalls in the diagnosis of multiple sulfatase deficiency.

H. Stroink, R. de Coo, J. Huijmans, 2001, Neuropediatrics.

Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.

W. Blom, J. Huijmans, G. B. van den Berg, 1985 .