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Items: 1 to 20 of 48

1.

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.

Gelb MH, Lukacs Z, Ranieri E, Schielen PCJI.

Int J Neonatal Screen. 2019 Mar;5(1). pii: 1. doi: 10.3390/ijns5010001. Epub 2018 Dec 21.

2.

Megaphylogeny resolves global patterns of mushroom evolution.

Varga T, Krizsán K, Földi C, Dima B, Sánchez-García M, Sánchez-Ramírez S, Szöllősi GJ, Szarkándi JG, Papp V, Albert L, Andreopoulos W, Angelini C, Antonín V, Barry KW, Bougher NL, Buchanan P, Buyck B, Bense V, Catcheside P, Chovatia M, Cooper J, Dämon W, Desjardin D, Finy P, Geml J, Haridas S, Hughes K, Justo A, Karasiński D, Kautmanova I, Kiss B, Kocsubé S, Kotiranta H, LaButti KM, Lechner BE, Liimatainen K, Lipzen A, Lukács Z, Mihaltcheva S, Morgado LN, Niskanen T, Noordeloos ME, Ohm RA, Ortiz-Santana B, Ovrebo C, Rácz N, Riley R, Savchenko A, Shiryaev A, Soop K, Spirin V, Szebenyi C, Tomšovský M, Tulloss RE, Uehling J, Grigoriev IV, Vágvölgyi C, Papp T, Martin FM, Miettinen O, Hibbett DS, Nagy LG.

Nat Ecol Evol. 2019 Apr;3(4):668-678. doi: 10.1038/s41559-019-0834-1. Epub 2019 Mar 18.

PMID:
30886374
3.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A.

Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.

PMID:
30771299
4.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M.

Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29. Review.

5.

Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses.

Remiche G, Lukacs Z, Kasper DC, Abramowicz M, Pandolfo M.

J Neuromuscul Dis. 2018;5(4):471-480. doi: 10.3233/JND-180336.

PMID:
30175981
6.
7.

Occurrence of Spirocerca lupi Infection in Hungarian Dogs Referred for Gastroscopy.

Psáder R, Balogh M, Pápa K, Sterczer Á, Lukács Z, Harnos A.

Parasitol Res. 2017 Aug;116(Suppl 1):99-108. doi: 10.1007/s00436-017-5496-9. No abstract available.

PMID:
28717955
8.

Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.

Lukacs Z, Barr M, Hamilton J.

Clin Chim Acta. 2017 Aug;471:201-205. doi: 10.1016/j.cca.2017.05.027. Epub 2017 May 19.

PMID:
28532785
9.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP.

Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13. Review.

10.

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Hu H, Hübner C, Lukacs Z, Musante L, Gill E, Wienker TF, Ropers HH, Knierim E, Schuelke M.

Eur J Hum Genet. 2017 Feb;25(2):253-256. doi: 10.1038/ejhg.2016.149. Epub 2016 Nov 9.

11.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N.

Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.

12.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

13.

Tolerability, safety, and pharmacokinetics of the novel cathepsin A inhibitor SAR164653 in healthy subjects.

Tillner J, Lehmann A, Paehler T, Lukacs Z, Ruf S, Sadowski T, Pinquier JL, Ruetten H.

Clin Pharmacol Drug Dev. 2016 Jan;5(1):57-68. doi: 10.1002/cpdd.201. Epub 2015 Sep 24.

PMID:
27119579
14.

Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

Hoehn T, Lukacs Z, Huckenbeck W, Torresani T, Blankenstein O, Bounnack S.

J Trop Pediatr. 2016 Apr;62(2):158-60. doi: 10.1093/tropej/fmv078. Epub 2015 Dec 31.

15.

The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).

Grosse R, Lukacs Z, Cobos PN, Oyen F, Ehmen C, Muntau B, Timmann C, Noack B.

Pediatr Blood Cancer. 2016 Jan;63(1):168-70. doi: 10.1002/pbc.25706. Epub 2015 Aug 14.

PMID:
26275168
16.

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B.

Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10.

PMID:
26231297
17.

Combined Serological Detection of Circulating Angiostrongylus vasorum Antigen and Parasite-specific Antibodies in Dogs from Hungary.

Schnyder M, Schaper R, Lukács Z, Hornok S, Farkas R.

Parasitol Res. 2015 Aug;114 Suppl 1:S145-54. doi: 10.1007/s00436-015-4520-1.

18.

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

Cobos PN, Steglich C, Santer R, Lukacs Z, Gal A.

JIMD Rep. 2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.

19.

Seroprevalence of some vector-borne infections of dogs in Hungary.

Farkas R, Gyurkovszky M, Lukács Z, Aladics B, Solymosi N.

Vector Borne Zoonotic Dis. 2014 Apr;14(4):256-60. doi: 10.1089/vbz.2013.1469. Epub 2014 Apr 1.

20.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.

Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R.

J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1.

PMID:
24687295

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