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1.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
J Med Genet
; 60(7): 697-705, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36414255
2.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35279366
3.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Article
in English
| MEDLINE | ID: mdl-35457240
4.
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Methods Protoc
; 1(3)2018 Aug 16.
Article
in English
| MEDLINE | ID: mdl-31164572
5.
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.
Arq Neuropsiquiatr
; 65(4B): 1224-7, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-18345435
6.
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.
Clin Chim Acta
; 364(1-2): 180-7, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16197934
7.
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
J Neurol
; 254(8): 1133-4, 2007 Aug.
Article
in English
| MEDLINE | ID: mdl-17410324
8.
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
J Child Neurol
; 27(4): 523-5, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-21940685
9.
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia
Arq. neuropsiquiatr
; 65(4b): 1224-1227, dez. 2007. ilus, tab
Article
in English
| LILACS | ID: lil-477776
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