Detalhe da pesquisa
1.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
2.
Congenital disorders of glycosylation: a rare cause of nephrotic syndrome.
Nephrol Dial Transplant
; 24(8): 2591-4, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19474279
3.
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
Orphanet J Rare Dis
; 10: 18, 2015 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758258
4.
Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease).
Neuromuscul Disord
; 18(5): 408-9, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18434155
5.
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Eur J Med Genet
; 55(10): 552-6, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781753
6.
Symptomatic severe hypertriglyceridaemia with asparaginase therapy in acute lymphoblastic leukaemia (ALL) and lymphoblastic lymphoma: is rechallenging safe?
Int J Hematol
; 94(6): 571-5, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22057510
7.
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Pediatr Neurol
; 43(5): 351-4, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20933180
8.
The diagnosis of inherited metabolic diseases by microarray gene expression profiling.
Orphanet J Rare Dis
; 5: 34, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21122112
9.
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
Hum Mol Genet
; 14(8): 1077-86, 2005 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15772097