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1

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

Journal:

The Journal of Pediatrics

Année:

2005

Langue:

english

Fichier:

PDF, 143 KB

english, 2005

2

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

J.B. Van Goudoever, T. Colen, J.L.D. Wattimena, J.G.M. Huijmans, V.P. Carnielli, P.J.J. Sauer

Journal:

The Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 741 KB

english, 1995

3

Glutamine Supplementation of Parenteral Nutrition Does Not Improve Intestinal Permeability, Nitrogen Balance, or Outcome in Newborns and Infants Undergoing Digestive-Tract Surgery

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

Journal:

Annals of Surgery

Année:

2005

Langue:

english

Fichier:

PDF, 328 KB

english, 2005

4

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

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.

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 824 KB

english, 2017

5

Heterozygous Cystinuria and Calcium Oxalate Urolithiasis

Carpentier, P.J., Kurth, K.H., Blom, W., Huijmans, J.G.M.

Journal:

The Journal of Urology

Année:

1983

Langue:

english

Fichier:

PDF, 115 KB

english, 1983

6

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

W. J. KLEIJER, E. A. KARPOVA, G. C. GEILEN, J. L. M. KEULEMANS, J. G. M. HUIJMANS, I. V. TSVETKOVA, YA. V. VOZNYI, O. P. VAN DIGGELEN

Journal:

Prenatal Diagnosis

Année:

1996

Langue:

english

Fichier:

PDF, 538 KB

english, 1996

7

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

M. ÇOKER, M. DURAN, J. B. C. DE KLERK, W. J. KLEIJER, C. JAKOBS, J. G. M. HUIJMANS

Journal:

Prenatal Diagnosis

Année:

1996

Langue:

english

Fichier:

PDF, 261 KB

english, 1996

8

First-trimester diagnosis of Morquio disease type A

W. J. Kleijer, G. C. Geilen, V. Garritsen, J. G. M. Huijmans, F. J. Los, Y. V. Voznyi, O. P. van Diggelen

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 44 KB

english, 2000

9

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

E. Schollen, L. Dorland, T.J. de Koning, O.P. Van Diggelen, J.G.M. Huijmans, T. Marquardt, D. Babovic-Vuksanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze, G. Matth

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 225 KB

english, 2000

10

Morquio B syndrome: A primary defect in β-galactosidase

Gijsbertus T. J. van der Horst, Wim J. Kleijer, André T. Hoogeveen, Jan G. M. Huijmans, Wim Blom, Dr. Otto P. van Diggelen

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 902 KB

english, 1983

11

β-glucuronidase deficiency as a cause of fetal hydrops

M. J. Kagie, W. J. Kleijer, J. G. M. Huijmans, P. Maaswinkel-Mooy, Dr. H. H. H. Kanhai

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 283 KB

english, 1992

12

Prenatal diagnosis of the urea cycle diseases: A survey of the european cases

Professor P. Kamoun, A. H. Fensom, Y. S. Shin, E. Bakker, J. P. Colombo, A. Munnich, S. Bird, S. Canini, J. G. M. Huijmans, B. Chadefaux-Vekemans, A. E. Whitfield, W. J. Kleijer

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 430 KB

english, 1995

13

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

G.M.S. Mancini, C.E. Catsman-Berrevoets, I.F.M. de Coo, F.K. Aarsen, J.H.J. Kamphoven, J.G. Huijmans, M. Duran, M.S. van der Knaap, C. Jakobs, G.S. Salomons

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 356 KB

english, 2005

14

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, Ruud Berger, Tom J. de Koning, Monique G.M. de Sain-van der Velden

Journal:

Journal of Chromatography B

Année:

2007

Langue:

english

Fichier:

PDF, 360 KB

english, 2007

15

Precise analysis of primary amino acids in urine by an automated high-performance liquid chromatography method: comparison with ion-exchange chromatography

Durk Fekkes, Ans Voskuilen-Kooyman, Robin Jankie, Jan Huijmans

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

2000

Langue:

english

Fichier:

PDF, 169 KB

english, 2000

16

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

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 112 KB

english, 2006

17

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

W. J. Kleijer, W. Blom, J. G. M. Huijmans, M. C. T. Mooyman, R. Berger, M. F. Niermeijer

Journal:

Prenatal Diagnosis

Année:

1984

Langue:

english

Fichier:

PDF, 374 KB

english, 1984

18

Early prenatal diagnosis of congenital hypophosphatasia: Case report

J. W. Wladimiroff, M. F. Niermeijer, J. J. Van Der Harten, P. A. Stewart, F. G. A. Versteegh, W. Blom, J. G. M. Huijmans

Journal:

Prenatal Diagnosis

Année:

1985

Langue:

english

Fichier:

PDF, 523 KB

english, 1985

19

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

Wang He, Ya. V. Voznyi, J. G. M. Huijmans, G. C. Geilen, E. A. Karpova, T. V. Dudukina, J. Zaremba, O. P. van Diggelen, Dr. W. J. Kleijer

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 433 KB

english, 1994

20

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters

Dr. W. J. Kleijer, M. Van Der Kraan, J. G. M. Huijmans, C. M. M. Van Den Heuvel, C. Jakobs

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 547 KB

english, 1995

21

Prenatal diagnosis of the Hunter syndrome and the introduction of a new fluorimetric enzyme assay

J. L. M. Keulemans, I. Sinigerska, V. H. Garritsen, J. G. M. Huijmans, Y. V. Voznyi, O. P. van Diggelen, W. J. Kleijer

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 117 KB

english, 2002

22

Prenatal diagnosis of Sanfilippo disease type B

W. J. Kleijer, J. G. M. Huijmans, W. Blom, D. Gorska, J. Kubalska, M. Walasek, J. Zaremba

Journal:

Année:

1984

Langue:

english

Fichier:

PDF, 315 KB

english, 1984

23

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

W. Blom, J. G. M. Huijmans

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 2.15 MB

english, 1992

24

Intracellular amino acid concentrations in children with chronic renal insufficiency

Joana E. Kist-van Holthe tot Echten, Jan G. M. Huijmans, Wim C. J. Hop, Leo A. H. Monnens, Maria C. J. W. Jong, Cornelia M. Noordzij, Rembert Slotema, Jeroen Nauta, Eric D. Wolff

Journal:

Pediatric Nephrology

Année:

1996

Langue:

english

Fichier:

PDF, 497 KB

english, 1996

25

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

M. Çoker, J. B. C. de Klerk, B. T. Poll-The, J. G. M. Huijmans, M. Duran

Journal:

Journal of Inherited Metabolic Disease

Année:

1996

Langue:

english

Fichier:

PDF, 656 KB

english, 1996

26

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

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

Journal:

Journal of Inherited Metabolic Disease

Année:

1989

Langue:

english

Fichier:

PDF, 1.56 MB

english, 1989

27

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

W. Blom, A. C. Polder-Mol, H. H. Kelholt-Dijkman, L. Hierck, J. G. M. Huijmans

Journal:

Journal of Inherited Metabolic Disease

Année:

1990

Langue:

english

Fichier:

PDF, 440 KB

english, 1990

28

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

W. J. Kleijer, P. Hu, R. Thoomes, M. Boer, J. G. M. Huijmans, W. Blom, O. P. Van Diggelen, E. Seemanova, M. Macek

Journal:

Journal of Inherited Metabolic Disease

Année:

1990

Langue:

english

Fichier:

PDF, 696 KB

english, 1990

29

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

O. P. van Diggelen, D. Schindler, R. Willemsen, M. Boer, W. J. Kleijer, J. G. M. Huijmans, W. Blom, H. Galjaard

Journal:

Journal of Inherited Metabolic Disease

Année:

1988

Langue:

english

Fichier:

PDF, 723 KB

english, 1988

30

Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder

W. Blom, G. B. van den Berg, J. G. M. Huijmans, J. A. R. Sanders-Woudstra

Journal:

Journal of Inherited Metabolic Disease

Année:

1985

Langue:

english

Fichier:

PDF, 268 KB

english, 1985

31

Sudden infant death and lysinuric protein intolerance

J. B. C. de Klerk, M. Duran, J. G. M. Huijmans, G. M. S. Mancini

Journal:

European Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 397 KB

english, 1996

32

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

H. R. Scholte, J. D. Ross, W. Blom, A. M. C. Boonman, O. P. van Diggelen, C. L. Hall, J. G. M. Huijmans, I. E. M. Luyt-Houwen, W. J. Kleijer, J. B. C. de Klerk, H. Przyrembel, M. H. M. Verduin, J. C.

Journal:

Journal of Inherited Metabolic Disease

Année:

1992

Langue:

english

Fichier:

PDF, 348 KB

english, 1992

33

Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

G.J.G. Ruijter, O.P. van Diggelen, F.W. Verheijen, G.C. Schoonderwoerd, H.T. Brüggenwirth, G.M.S. Mancini, D.J.J. Halley, J.G.M. Huijmans

Journal:

Tijdschrift voor Kindergeneeskunde

Année:

2011

Langue:

dutch

Fichier:

PDF, 108 KB

dutch, 2011

34

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, Johannes B. de Klerk, Ireneus F. de Coo, Jan G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 329 KB

english, 2012

35

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, Frans W. Verheijen, George J. G. Ruijter

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 133 KB

english, 2011

36

Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

G.J.G. Ruijter, O.P. van Diggelen, F.W. Verheijen, G.C. Schoonderwoerd, H.T. Brüggenwirth, G.M.S. Mancini, D.J.J. Halley, J.G.M. Huijmans

Journal:

Tijdschrift voor Kindergeneeskunde

Année:

2010

Langue:

dutch

Fichier:

PDF, 221 KB

dutch, 2010

37

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

Anna Tylki-Szymańska, Barbara Czartoryska, Susanna Bunge, Otto P van Diggelen, Wim J Kleijer, Ben JHM Poor-trims, Jan GM Huijmans, Danuta Górska

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 3.76 MB

english, 1998

38

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

Appel, I M, Kazemier, K M, Boos, J, Lanvers, C, Huijmans, J, Veerman, A J P, van Wering, E, den Boer, M L, Pieters, R

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 509 KB

english, 2008

39

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome

van den Ouweland, J M W, de Klerk, J B C, van de Corput, M P, Dirks, R W, Raap, A K, Scholte, H R, Huijmans, J G M, 't Hart, L M, Bruining, G J, Maassen, J A

Journal:

European Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 373 KB

english, 2000

40

Glycogen storage disease type III with diagnosis complicated by gluten-sensitive enteropathy

R. Artan, O.P. van Diggelen, J.G.M. Huijmans

Journal:

Journal of Inherited Metabolic Disease

Année:

1998

Langue:

english

Fichier:

PDF, 60 KB

english, 1998

41

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

R.J.A. Wanders, L. Vilarinho, H.P. Hartung, G.F. Hoffmann, P.A.W. Mooijer, G.A. Jansen, J.G.M. Huijmans, J.B.C. de Klerk, H.J. ten Brink, C. Jakobs, M. Duran

Journal:

Journal of Inherited Metabolic Disease

Année:

1997

Langue:

english

Fichier:

PDF, 8 KB

english, 1997

42

Fatal neonatal malonic aciduria

B. Buyukgebiz, C. Jakobs, H.R. Scholte, J. G. M. Huijmans, W. J. Kleijer

Journal:

Journal of Inherited Metabolic Disease

Année:

1998

Langue:

english

Fichier:

PDF, 91 KB

english, 1998

43

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

W. J. Kleijer, V. H. Garritsen, M. Linnebank, P. Mooyer, J. G. M. Huijmans, A. Mustonen, K. O. J. Simola, M. Arslan-Kirchner, R. Battini, P. Briones, E. Cardo, H. Mandel, E. Tschiedel, R. J. A. Wander

Journal:

Journal of Inherited Metabolic Disease

Année:

2002

Langue:

english

Fichier:

PDF, 117 KB

english, 2002

44

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, Cokkie H. Wouters, Alice S. Brooks

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 120 KB

english, 2012

45

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.C. Luteyn, H.H. Kelholt-Dijkman, J.G.M. Huijmans, M.C.B. Loonen

Journal:

Clinica Chimica Acta

Année:

1983

Langue:

english

Fichier:

PDF, 967 KB

english, 1983

46

Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome

R.J.A. Wanders, C.W.T. Van Roermund, R. Westra, R.B.H. Schutgens, M.A. van der Ende, J.M. Tager, L.A.H. Monnens, H. Baadenhuysen, L. Govaerts, H. Przyrembel, E.D. Wolff, W. Blom, J.G.M. Huijmans, F.G.

Journal:

Clinica Chimica Acta

Année:

1987

Langue:

english

Fichier:

PDF, 646 KB

english, 1987

47

4124 Identification of glycosaminoglycans in age-related macular deposits

M. Kliffen, J.G.M. Huijmans, C.M. Mooy, T.M. Luider, S. Kerkvliet, P.T.V.M. De Jong

Journal:

Vision Research

Année:

1995

Langue:

english

Fichier:

PDF, 129 KB

english, 1995

48

Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency

M.C.Y. de Wit, I.F.M. de Coo, E. Verbeek, R. Schot, G.C. Schoonderwoerd, M. Duran, J.B.C. de Klerk, J.G.M. Huijmans, M.H. Lequin, F.W. Verheijen, G.M.S. Mancini

Journal:

Molecular Genetics and Metabolism

Année:

2006

Langue:

english

Fichier:

PDF, 266 KB

english, 2006

49

8 Sixteen years of experience of biochemical analysis and prenatal diagnosis of lysosomal storage disease in Iran

Mohammad Hasan Karimi-Nejad, Fariba Afroozan, Bita Bozrgmehr, Navid Almadani, Valeh Hadavi, Jan G.M. Huijman, Wim J. Kleijer, Otto P. Van Diggelen, Roxana Kariminejad

Journal:

Molecular Genetics and Metabolism

Année:

2007

Langue:

english

Fichier:

PDF, 45 KB

english, 2007

50

Defects in Mitochondrial Beta Oxidation

H.R. SCHOLTE, I.E.M. LUYT-HOUWEN, W. BLOM, H.F.M. BUSCH, P.C. DE JONGE, M. DE VISSER, J.G.M. HUIJMANS, F.G.I. JENNEKENS, P.D. MOOY, H. PRZYREMBEL, R.B.H. SCHUTGENS, M.H.M. VAANDRAGER-VERDUIN, R.N.A. V

Journal:

Annals of the New York Academy of Sciences

Année:

1986

Langue:

english

Fichier:

PDF, 151 KB

english, 1986