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Items: 1 to 20 of 135

1.

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

Chen PW, Lee NC, Chien YH, Wu JY, Wang PC, Hwu WL.

Clin Chim Acta. 2014 Apr 20;431:19-22. doi: 10.1016/j.cca.2014.01.034. Epub 2014 Feb 7.

PMID:
24513538
2.

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.

Mol Genet Metab. 2016 Aug;118(4):259-63. doi: 10.1016/j.ymgme.2016.05.011. Epub 2016 May 16.

PMID:
27216367
3.

Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.

Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):91-4. doi: 10.1016/j.ymgme.2015.04.008. Epub 2015 May 2.

PMID:
25956449
4.

Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study.

Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY.

Clin Chim Acta. 2012 Jan 18;413(1-2):126-30. doi: 10.1016/j.cca.2011.09.008. Epub 2011 Sep 21.

PMID:
21963339
5.

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.

Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF.

Neuropediatrics. 2002 Jun;33(3):113-7.

PMID:
12200739
6.

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.

Verbeek MM, Geurtz PB, Willemsen MA, Wevers RA.

Mol Genet Metab. 2007 Apr;90(4):363-9. Epub 2007 Jan 19.

PMID:
17240182
7.

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.

Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC.

Neurology. 2004 Apr 13;62(7):1058-65. Review.

PMID:
15079002
8.

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

Zikanova M, Krijt J, Skopova V, Krijt M, Baresova V, Kmoch S.

Clin Biochem. 2015 Jan;48(1-2):2-7. doi: 10.1016/j.clinbiochem.2014.10.004. Epub 2014 Oct 23.

PMID:
25445730
9.

Gene therapy for aromatic L-amino acid decarboxylase deficiency.

Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, Snyder RO, Byrne BJ, Tai CH, Wu RM.

Sci Transl Med. 2012 May 16;4(134):134ra61. doi: 10.1126/scitranslmed.3003640.

10.

Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy.

Han M, Jun SH, Song SH, Park HD, Park KU, Song J.

Rapid Commun Mass Spectrom. 2014 Mar 30;28(6):587-94. doi: 10.1002/rcm.6823.

PMID:
24519821
11.

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

Janzen N, Terhardt M, Sander S, Demirkol M, Gökçay G, Peter M, Lücke T, Sander J, Das AM.

Clin Chim Acta. 2014 Mar 20;430:28-32. doi: 10.1016/j.cca.2013.12.020. Epub 2013 Dec 25.

PMID:
24370386
12.

Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology.

Hyland K, Clayton PT.

Clin Chem. 1992 Dec;38(12):2405-10.

13.

Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis.

Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA.

Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9.

PMID:
16288991
14.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Régal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N.

Neurology. 2010 Jul 6;75(1):64-71. doi: 10.1212/WNL.0b013e3181e620ae. Epub 2010 May 26. Erratum in: Neurology. 2010 Aug 10;75(6):576. Dosage error in article text.

PMID:
20505134
15.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C.

J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

PMID:
24767876
16.

UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.

Janzen N, Steuerwald U, Sander S, Terhardt M, Peter M, Sander J.

Clin Chim Acta. 2013 Jun 5;421:41-5. doi: 10.1016/j.cca.2013.03.001. Epub 2013 Mar 13.

PMID:
23499962
17.

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.

Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16.

PMID:
20157782
18.

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

Arnoux JB, Damaj L, Napuri S, Serre V, Hubert L, Cadoudal M, Simard G, Ceballos I, Christa L, de Lonlay P.

J Clin Endocrinol Metab. 2013 Nov;98(11):4279-84. doi: 10.1210/jc.2013-2740. Epub 2013 Sep 13.

PMID:
24037885
19.

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Ide S, Sasaki M, Kato M, Shiihara T, Kinoshita S, Takahashi JY, Goto Y.

Brain Dev. 2010 Jun;32(6):506-10. doi: 10.1016/j.braindev.2009.05.004. Epub 2009 Jun 10.

PMID:
19520530
20.

An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.

Alodaib A, Carpenter K, Wiley V, Sim K, Christodoulou J, Wilcken B.

Ann Clin Biochem. 2011 Sep;48(Pt 5):468-70. doi: 10.1258/acb.2011.010283. Epub 2011 Jul 20.

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