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1.
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.
BMC Neurosci
; 13: 41, 2012 Apr 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-22536786
2.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Genet Med
; 13(3): 230-54, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21325949
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-16197934
4.
Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.
JIMD Rep
; 7: 67-75, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23430498
5.
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
J Neurol
; 254(8): 1133-4, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17410324
6.
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
J Child Neurol
; 27(4): 523-5, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21940685
7.
Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction.
Pediatr Rep
; 1(1): e4, 2009 Jun 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-21589820
8.
A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.
Mol Genet Metab
; 87(1): 88-90, 2006 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-16293431
9.
Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
Clin Chem
; 48(10): 1772-8, 2002 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-12324495
10.
Screening for eating disorders: false negatives and eating disorders not otherwise specified
Eur. j. psychiatry
; 20(1): 13-20, ene.-mar. 2006. tab, graf
Artículo
en En
| IBECS (España) | ID: ibc-054225
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