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Items: 1 to 50 of 307

1.

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Manti F, Nardecchia F, Barresi S, Venditti M, Pizzi S, Hamdan FF, Blau N, Burlina A, Tartaglia M, Leuzzi V.

Parkinsonism Relat Disord. 2018 Oct 11. pii: S1353-8020(18)30440-1. doi: 10.1016/j.parkreldis.2018.10.012. [Epub ahead of print]

PMID:
30337205
2.

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.

Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group.

Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649.

PMID:
30311390
3.

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ.

Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Review.

4.

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.

Himmelreich N, Shen N, Okun JG, Thiel C, Hoffmann GF, Blau N.

Mol Genet Metab. 2018 Sep;125(1-2):86-95. doi: 10.1016/j.ymgme.2018.06.011. Epub 2018 Jun 23.

PMID:
30037505
5.

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Garbade SF, Shen N, Himmelreich N, Haas D, Trefz FK, Hoffmann GF, Burgard P, Blau N.

Genet Med. 2018 Jul 12. doi: 10.1038/s41436-018-0081-x. [Epub ahead of print]

PMID:
29997390
6.

A proposed nosology of inborn errors of metabolism.

Ferreira CR, van Karnebeek CDM, Vockley J, Blau N.

Genet Med. 2018 Jun 8. doi: 10.1038/s41436-018-0022-8. [Epub ahead of print]

PMID:
29884839
7.

Homocarnosinosis: A historical update and findings in the SPG11 gene.

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J.

Acta Neurol Scand. 2018 Sep;138(3):245-250. doi: 10.1111/ane.12949. Epub 2018 May 6.

PMID:
29732542
8.

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.

Fernández-Lainez C, Ibarra-González I, Alcántara-Ortigoza MÁ, Fernández-Hernández L, Enríquez-Flores S, González-Del Ángel A, Blau N, Thöny B, Guillén-López S, Belmont-Martínez L, Ruiz-García M, Vela-Amieva M.

Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21.

PMID:
29685341
9.

Fully automatic detection of renal cysts in abdominal CT scans.

Blau N, Klang E, Kiryati N, Amitai M, Portnoy O, Mayer A.

Int J Comput Assist Radiol Surg. 2018 Jul;13(7):957-966. doi: 10.1007/s11548-018-1726-6. Epub 2018 Mar 15.

PMID:
29546571
10.

Think big - think omics.

Wevers RA, Blau N.

J Inherit Metab Dis. 2018 May;41(3):281-283. doi: 10.1007/s10545-018-0165-4. No abstract available.

PMID:
29541953
11.

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y.

Clin Chim Acta. 2018 Jun;481:132-138. doi: 10.1016/j.cca.2018.02.035. Epub 2018 Feb 28.

PMID:
29499199
12.

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

Lee JJY, Gottlieb MM, Lever J, Jones SJM, Blau N, van Karnebeek CDM, Wasserman WW.

J Inherit Metab Dis. 2018 May;41(3):555-562. doi: 10.1007/s10545-017-0125-4. Epub 2018 Jan 16.

13.

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B.

Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Review.

PMID:
29174366
14.

The complete European guidelines on phenylketonuria: diagnosis and treatment.

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.

Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Review.

15.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S.

Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11.

PMID:
28892570
16.

Issues with European guidelines for phenylketonuria - Authors' reply.

van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. No abstract available.

PMID:
28842159
17.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.

van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B.

J Med Genet. 2017 Aug 9. pii: jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. [Epub ahead of print]

PMID:
28794131
18.

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Lee JJY, Wasserman WW, Hoffmann GF, van Karnebeek CDM, Blau N.

Genet Med. 2018 Jan;20(1):151-158. doi: 10.1038/gim.2017.108. Epub 2017 Jul 20.

19.

Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.

Nardecchia F, Chiarotti F, Carducci C, Santagata S, Valentini G, Angeloni A, Blau N, Leuzzi V.

Eur J Pediatr. 2017 Jul;176(7):917-924. doi: 10.1007/s00431-017-2932-x. Epub 2017 May 24.

PMID:
28540433
20.

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

Jung-Klawitter S, Ebersold J, Göhring G, Blau N, Opladen T.

Stem Cell Res. 2017 Apr;20:38-41. doi: 10.1016/j.scr.2017.02.010. Epub 2017 Feb 24.

21.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M.

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.

22.

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T.

Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Review.

23.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Review.

PMID:
28082082
24.

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

Karin I, Borggraefe I, Catarino CB, Kuhm C, Hoertnagel K, Biskup S, Opladen T, Blau N, Heinen F, Klopstock T.

J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4. No abstract available.

PMID:
28054128
25.

Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

Jung-Klawitter S, Blau N, Sebe A, Ebersold J, Göhring G, Opladen T.

Stem Cell Res. 2016 Nov;17(3):580-583. doi: 10.1016/j.scr.2016.10.008. Epub 2016 Oct 26.

26.

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.

Pan Y, Shen N, Jung-Klawitter S, Betzen C, Hoffmann GF, Hoheisel JD, Blau N.

Sci Rep. 2016 Oct 27;6:35794. doi: 10.1038/srep35794.

27.

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Trunzo R, Santacroce R, Shen N, Jung-Klawitter S, Leccese A, De Girolamo G, Margaglione M, Blau N.

Gene. 2016 Dec 5;594(1):138-143. doi: 10.1016/j.gene.2016.09.015. Epub 2016 Sep 13.

PMID:
27620137
28.

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.

Delmelle F, Thöny B, Clapuyt P, Blau N, Nassogne MC.

Eur J Paediatr Neurol. 2016 Sep;20(5):709-13. doi: 10.1016/j.ejpn.2016.05.021. Epub 2016 Jun 13.

PMID:
27328863
29.

Genetics of Phenylketonuria: Then and Now.

Blau N.

Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18. Review.

PMID:
26919687
30.

Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

Korner G, Scherer T, Adamsen D, Rebuffat A, Crabtree M, Rassi A, Scavelli R, Homma D, Ledermann B, Konrad D, Ichinose H, Wolfrum C, Horsch M, Rathkolb B, Klingenspor M, Beckers J, Wolf E, Gailus-Durner V, Fuchs H, Hrabě de Angelis M, Blau N, Rozman J, Thöny B.

J Inherit Metab Dis. 2016 Mar;39(2):309-19. doi: 10.1007/s10545-015-9909-6. Epub 2016 Feb 1.

PMID:
26830550
31.

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.

Shen N, Heintz C, Thiel C, Okun JG, Hoffmann GF, Blau N.

Mol Genet Metab. 2016 Mar;117(3):328-35. doi: 10.1016/j.ymgme.2016.01.004. Epub 2016 Jan 12.

PMID:
26803807
32.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

MacDonald A, Ahring K, Almeida MF, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla AS, Kamieńska E, Maillot F, Lammardo AM, Muntau AC, Puchwein-Schwepcke A, Robert M, Rocha JC, Santra S, Skeath R, Strączek K, Trefz FK, van Dam E, van Rijn M, van Spronsen F, Vijay S.

Mol Genet Metab. 2015 Dec;116(4):242-51. doi: 10.1016/j.ymgme.2015.10.001. Epub 2015 Oct 9.

PMID:
26498184
33.

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau AC, Trefz FK, van Spronsen FJ, Blau N.

Eur J Pediatr. 2016 Feb;175(2):261-72. doi: 10.1007/s00431-015-2622-5. Epub 2015 Sep 8.

34.

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.

JIMD Rep. 2015;24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26.

35.

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling.

Trefz F, Lichtenberger O, Blau N, Muntau AC, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A.

Mol Genet Metab. 2015 Apr;114(4):564-9. doi: 10.1016/j.ymgme.2015.01.013. Epub 2015 Feb 7.

PMID:
25726095
36.

Alternative therapies to address the unmet medical needs of patients with phenylketonuria.

Blau N, Longo N.

Expert Opin Pharmacother. 2015 Apr;16(6):791-800. doi: 10.1517/14656566.2015.1013030. Epub 2015 Feb 7.

PMID:
25660215
37.

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M.

Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14.

PMID:
25597765
38.

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A, Blau N.

Eur J Hum Genet. 2015 Mar;23(3):302-9. doi: 10.1038/ejhg.2014.114. Epub 2014 Jun 18.

39.

Molecular genetics and diagnosis of phenylketonuria: state of the art.

Blau N, Shen N, Carducci C.

Expert Rev Mol Diagn. 2014 Jul;14(6):655-71. doi: 10.1586/14737159.2014.923760. Epub 2014 May 31. Review.

PMID:
24882081
40.

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.

Simaite D, Kofent J, Gong M, Rüschendorf F, Jia S, Arn P, Bentler K, Ellaway C, Kühnen P, Hoffmann GF, Blau N, Spagnoli FM, Hübner N, Raile K.

Diabetes. 2014 Oct;63(10):3557-64. doi: 10.2337/db13-1784. Epub 2014 May 21.

41.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM.

Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6.

PMID:
24667081
42.

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M.

Acta Neurol Scand Suppl. 2014;(198):7-12. doi: 10.1111/ane.12230.

PMID:
24588500
43.

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A.

Mol Genet Metab. 2013 Dec;110(4):418-23. doi: 10.1016/j.ymgme.2013.09.001. Epub 2013 Sep 9. Review.

44.

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

Anjema K, van Rijn M, Hofstede FC, Bosch AM, Hollak CE, Rubio-Gozalbo E, de Vries MC, Janssen MC, Boelen CC, Burgerhof JG, Blau N, Heiner-Fokkema MR, van Spronsen FJ.

Orphanet J Rare Dis. 2013 Jul 10;8:103. doi: 10.1186/1750-1172-8-103.

45.

Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias.

Blau N.

Expert Opin Drug Metab Toxicol. 2013 Sep;9(9):1207-18. doi: 10.1517/17425255.2013.804064. Epub 2013 May 27. Review.

PMID:
23705856
46.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.

Keil S, Anjema K, van Spronsen FJ, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce ML, Feillet F, Cerone R, Lotz-Havla AS, Muntau AC, Bosch AM, Meli CA, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N.

Pediatrics. 2013 Jun;131(6):e1881-8. doi: 10.1542/peds.2012-3291. Epub 2013 May 20.

PMID:
23690520
47.

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

Heintz C, Cotton RG, Blau N.

Hum Mutat. 2013 Jul;34(7):927-36. doi: 10.1002/humu.22320. Epub 2013 May 1. Review.

PMID:
23559577
48.

Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.

Opladen T, Hoffmann GF, Kühn AA, Blau N.

Mol Genet Metab. 2013 Mar;108(3):195-7. doi: 10.1016/j.ymgme.2013.01.001. Epub 2013 Jan 12.

PMID:
23375473
49.

Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings.

Medici C, Varacchi C, Gonzalez G, Lemes A, Cerisola A, Pedemonte V, Blau N.

J Child Neurol. 2013 Nov;28(11):1496-1499. Epub 2012 Sep 10.

PMID:
22965559
50.

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.

Opladen T, Hoffmann GF, Blau N.

J Inherit Metab Dis. 2012 Nov;35(6):963-73. doi: 10.1007/s10545-012-9506-x. Epub 2012 Jun 23.

PMID:
22729819

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