Detalles de la búsqueda
1.
Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.
Pediatr Int
; 65(1): e15385, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36225105
2.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Mol Genet Metab
; 122(3): 67-75, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28801073
3.
[Successful treatment of epilepsy and circadian rhythm disturbance with levetiracetam in a patient with dentatorubral-pallidoluysian atrophy (DRPLA)].
No To Hattatsu
; 46(6): 439-42, 2014 Nov.
Artículo
en Japonés
| MEDLINE | ID: mdl-25558587
4.
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency.
Brain Dev
; 44(3): 244-248, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34863613
5.
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Pediatr Res
; 64(6): 667-72, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18670371
6.
Serial brain imaging analysis of stroke-like episodes in MELAS.
Brain Dev
; 30(7): 483-8, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18289816
7.
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Biochim Biophys Acta
; 1588(1): 79-84, 2002 Oct 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-12379317
8.
Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening.
J Chromatogr B Analyt Technol Biomed Life Sci
; 823(1): 7-12, 2005 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-16055049
9.
Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.
Pediatr Neurol
; 33(2): 98-104, 2005 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16087053
10.
Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.
Pediatr Int
; 52(4): e181-3, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20958858
11.
Ghrelin concentration in cord and neonatal blood: relation to fetal growth and energy balance.
J Clin Endocrinol Metab
; 88(11): 5473-7, 2003 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-14602792
12.
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
J Neurol Sci
; 201(1-2): 33-7, 2002 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12163191
13.
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Brain Dev
; 26(1): 57-60, 2004 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-14729417
14.
Three novel SURF-1 mutations in Japanese patients with Leigh syndrome.
Pediatr Neurol
; 26(3): 196-200, 2002 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-11955926
15.
Treatment for Leigh syndrome by monitoring dichloroacetate concentration.
Pediatr Int
; 51(2): 293-5, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19379261
16.
[Case of methylmalonic acidemia presenting clinically Leigh encephalopathy].
No To Hattatsu
; 36(4): 324-9, 2004 Jul.
Artículo
en Japonés
| MEDLINE | ID: mdl-15272617
17.
Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease.
Pediatr Int
; 50(6): 825-7, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19067902
18.
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.
Brain Dev
; 34(2): 87-91, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21454027
19.
Transient left temporal lobe lesion in Menkes disease may influence the generation of tonic spasms.
Brain Dev
; 33(4): 345-8, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21382542
20.
Association between vitamin D receptor genotype and age of onset in juvenile Japanese patients with type 1 diabetes.
Diabetes Care
; 25(7): 1244, 2002 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12087029