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Items: 1 to 50 of 153

1.

Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II.

Johnson BA, van Diggelen OP, Dajnoki A, Bodamer OA.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 17.14.. doi: 10.1002/0471142905.hg1714s79.

PMID:
24510650
2.

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.

Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.

PMID:
23786846
3.

Diagnosing mucopolysaccharidosis IVA.

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ.

J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1.

4.

Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.

Westermann CM, Dorland L, van Diggelen OP, Schoonderwoerd K, Bierau J, Waterham HR, van der Kolk JH.

Mol Genet Metab. 2011 Nov;104(3):273-8. doi: 10.1016/j.ymgme.2011.07.022. Epub 2011 Jul 27.

PMID:
21843962
5.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
6.

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA.

Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092.

PMID:
21061399
7.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
8.

Enzymatic and molecular strategies to diagnose Pompe disease.

Reuser A, Verheijen F, Kroos M, Okumiya T, Van Diggelen O, Van der Ploeg A, Halley D.

Expert Opin Med Diagn. 2010 Jan;4(1):79-89. doi: 10.1517/17530050903460300. Epub 2009 Dec 1.

PMID:
23496111
9.

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebícek M, Kmoch S, Pshezhetsky AV.

Hum Mutat. 2009 Jun;30(6):918-25. doi: 10.1002/humu.20986. Review.

PMID:
19479962
10.

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ.

J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19.

PMID:
19387865
11.

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Ørngreen MC, Schelhaas HJ, Jeppesen TD, Akman HO, Wevers RA, Andersen ST, ter Laak HJ, van Diggelen OP, DiMauro S, Vissing J.

Neurology. 2008 May 13;70(20):1876-82. doi: 10.1212/01.wnl.0000289190.66955.67. Epub 2008 Apr 9.

PMID:
18401027
12.

Sanfilippo syndrome: a mini-review.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA.

J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. Review.

PMID:
18392742
13.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J.

Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

PMID:
18078773
14.

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA.

Mol Genet Metab. 2008 Feb;93(2):104-11. Epub 2007 Nov 19.

PMID:
18024218
15.

Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.

Massa R, Bruno C, Martorana A, de Stefano N, van Diggelen OP, Federico A.

Muscle Nerve. 2008 Apr;37(4):530-6.

PMID:
17994551
16.

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

Frugier T, Mitchell NL, Tammen I, Houweling PJ, Arthur DG, Kay GW, van Diggelen OP, Jolly RD, Palmer DN.

Neurobiol Dis. 2008 Feb;29(2):306-15. Epub 2007 Sep 29.

17.

Null mutations and lethal congenital form of glycogen storage disease type IV.

Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C.

Biochem Biophys Res Commun. 2007 Sep 21;361(2):445-50. Epub 2007 Jul 24.

PMID:
17662246
18.

Muscular glycogen storage diseases without increased glycogen content on histopathological examination.

Hoeksma M, den Dunnen WF, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ.

Mol Genet Metab. 2007 Aug;91(4):370-3. Epub 2007 May 30.

PMID:
17540597
19.

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP.

Eur J Neurol. 2007 Apr;14(4):369-72.

PMID:
17388982
20.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
21.

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.

van Dael CM, Pierik LJ, Reijngoud DJ, Niezen-Koning KE, van Diggelen OP, van Spronsen FJ.

Mol Genet Metab. 2007 Feb;90(2):221-3. Epub 2006 Nov 28.

PMID:
17129743
22.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.

Am J Hum Genet. 2006 Nov;79(5):807-19. Epub 2006 Sep 8.

23.

Acquired lysosomal storage caused by frequent plasmapheresis procedures with hydroxyethyl starch.

Auwerda JJ, Leebeek FW, Wilson JH, van Diggelen OP, Lam KH, Sonneveld P.

Transfusion. 2006 Oct;46(10):1705-11.

PMID:
17002626
24.

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.

Ruijter GJ, Boer M, Weykamp CW, de Vries R, van den Berg I, Janssens-Puister J, Niezen-Koning K, Wevers RA, Poorthuis BJ, van Diggelen OP.

J Inherit Metab Dis. 2005;28(6):979-90.

PMID:
16435191
25.

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.

Mol Genet Metab. 2006 May;88(1):22-8. Epub 2005 Dec 15.

PMID:
16359900
26.

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.

van Diggelen OP, Voznyi YV, Keulemans JL, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K.

J Inherit Metab Dis. 2005;28(5):733-41.

PMID:
16151905
27.

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP.

J Inherit Metab Dis. 2005;28(5):703-6.

PMID:
16151901
28.

[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].

Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP.

Ned Tijdschr Geneeskd. 2005 Feb 5;149(6):300-3. Review. Dutch.

PMID:
15730038
29.

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Giuffrè B, Parini R, Rizzuti T, Morandi L, van Diggelen OP, Bruno C, Giuffrè M, Corsello G, Mosca F.

J Inherit Metab Dis. 2004;27(5):609-19.

PMID:
15669676
30.

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.

Ausseil J, Loredo-Osti JC, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen OP, Hudson TJ, Fujiwara TM, Morgan K, Pshezhetsky AV.

J Med Genet. 2004 Dec;41(12):941-5.

31.

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.

Kopra O, Vesa J, von Schantz C, Manninen T, Minye H, Fabritius AL, Rapola J, van Diggelen OP, Saarela J, Jalanko A, Peltonen L.

Hum Mol Genet. 2004 Dec 1;13(23):2893-906. Epub 2004 Sep 30.

PMID:
15459177
32.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.

Neurology. 2004 Sep 28;63(6):1053-8.

PMID:
15452297
33.

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.

Ausems MG, ten Berg K, Kroos MA, van Diggelen OP, Wevers RA, Poorthuis BJ, Niezen-Koning KE, van der Ploeg AT, Beemer FA, Reuser AJ, Sandkuijl LA, Wokke JH.

Community Genet. 1999;2(2-3):91-6.

PMID:
15181339
34.

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

Kleijer WJ, van Diggelen OP, Halley DJ, van der Ploeg AT, Mancini GM.

Ned Tijdschr Geneeskd. 2004 Apr 24;148(17):826-8. Dutch.

PMID:
15141649
35.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.

Pediatrics. 2004 May;113(5):e448-57.

PMID:
15121988
36.

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT.

Ann Neurol. 2004 Apr;55(4):495-502.

PMID:
15048888
37.

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J.

Ann Hum Genet. 2004 Jan;68(Pt 1):17-22.

38.

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.

Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, Kustermann-Kuhn B, Bruchelt G, van Diggelen OP, Mayrhofer H, Krägeloh-Mann I.

Neuropediatrics. 2003 Dec;34(6):301-6.

PMID:
14681755
39.

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

Nijssen PC, Ceuterick C, van Diggelen OP, Elleder M, Martin JJ, Teepen JL, Tyynelä J, Roos RA.

Brain Pathol. 2003 Oct;13(4):574-81.

PMID:
14655761
40.

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT.

Pediatrics. 2003 Aug;112(2):332-40. Review.

PMID:
12897283
41.

Studies on the pathogenesis of Costello syndrome.

Mancini GM, van Diggelen OP, Kleijer WJ, Di Rocco M, Farina V, Yuksel-Apak M, Kayserili H, Halley DJ.

J Med Genet. 2003 Apr;40(4):e37. No abstract available.

42.

Palmitoyl protein thioesterase 1 is targeted to the axons in neurons.

Ahtiainen L, Van Diggelen OP, Jalanko A, Kopra O.

J Comp Neurol. 2003 Jan 13;455(3):368-77.

PMID:
12483688
43.

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

Keulemans JL, Sinigerska I, Garritsen VH, Huijmans JG, Voznyi YV, van Diggelen OP, Kleijer WJ.

Prenat Diagn. 2002 Nov;22(11):1016-21.

PMID:
12424767
44.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.

Clin Genet. 2002 Jun;61(6):443-7.

PMID:
12121352
45.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

Asfaw B, Ledvinová J, Dobrovolńy R, Bakker HD, Desnick RJ, van Diggelen OP, de Jong JG, Kanzaki T, Chabas A, Maire I, Conzelmann E, Schindler D.

J Lipid Res. 2002 Jul;43(7):1096-104.

46.

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

Voznyi YV, Keulemans JL, van Diggelen OP.

J Inherit Metab Dis. 2001 Nov;24(6):675-80.

PMID:
11768586
47.

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Ausems MG, Wokke JH, Reuser AJ, van Diggelen OP.

Neurology. 2001 Nov 27;57(10):1938. No abstract available.

PMID:
11723305
48.

New mutations in the neuronal ceroid lipofuscinosis genes.

Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE.

Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. Review.

PMID:
11589012
49.

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

Van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV.

Eur J Paediatr Neurol. 2001;5 Suppl A:189-92.

PMID:
11588995
50.

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV.

Ann Neurol. 2001 Aug;50(2):269-72.

PMID:
11506414

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