Detalhe da pesquisa
1.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
2.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
3.
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Int J Neonatal Screen
; 10(1)2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535128
4.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Dev Med Child Neurol
; 54(5): 469-71, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21895644
5.
The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: what is the most appropriate imaging strategy?
Eur Radiol
; 21(9): 1820-30, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556909
6.
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Nutrients
; 12(11)2020 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137944
7.
Post-Treatment Movement Disorder in a Child with Late-onset Cobalamin Deficiency.
Mov Disord Clin Pract
; 9(2): 245-248, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35146063
8.
Clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration.
Dev Med Child Neurol
; 52(5): 407-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19817774
9.
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy.
JIMD Rep
; 5: 71-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430919
10.
Treating rare inborn errors of metabolism.
Lancet
; 364(9452): 2158-60, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15610786
11.
Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy.
Dev Med Child Neurol
; 49(2): 135-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17254002
12.
Glycogen storage disease type IX: High variability in clinical phenotype.
Mol Genet Metab
; 92(1-2): 88-99, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17689125
13.
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Am J Hum Genet
; 80(5): 931-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436247
14.
Acute bilateral striatal necrosis with rotavirus gastroenteritis and inborn metabolic predisposition.
Dev Med Child Neurol
; 47(6): 415-8, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15934490
15.
Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome.
Childs Nerv Syst
; 18(12): 729-31, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12483361