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1.
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Mol Genet Metab
; 136(1): 74-79, 2022 05.
Artículo
Inglés
| MEDLINE | ID: mdl-35400565
2.
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Pediatr Res
; 92(5): 1391-1399, 2022 11.
Artículo
Inglés
| MEDLINE | ID: mdl-35136200
3.
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Int J Mol Sci
; 21(3)2020 Feb 02.
Artículo
Inglés
| MEDLINE | ID: mdl-32024277
4.
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
J Hum Genet
; 64(2): 87-98, 2019 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-30514913
5.
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
Inglés
| MEDLINE | ID: mdl-28801073
6.
A case of classical maple syrup urine disease that was successfully managed by living donor liver transplantation.
Pediatr Transplant
; 21(5)2017 Aug.
Artículo
Inglés
| MEDLINE | ID: mdl-28612395
7.
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Mol Genet Metab
; 119(4): 322-328, 2016 12.
Artículo
Inglés
| MEDLINE | ID: mdl-27856190
8.
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Mol Genet Metab
; 118(1): 9-14, 2016 May.
Artículo
Inglés
| MEDLINE | ID: mdl-26947917
9.
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry.
Anal Bioanal Chem
; 407(18): 5281-6, 2015 Jul.
Artículo
Inglés
| MEDLINE | ID: mdl-26018627
10.
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Tohoku J Exp Med
; 235(4): 305-10, 2015 04.
Artículo
Inglés
| MEDLINE | ID: mdl-25843429
11.
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
J Obstet Gynaecol Res
; 41(7): 1126-8, 2015 Jul.
Artículo
Inglés
| MEDLINE | ID: mdl-25655073
12.
Ictal electroencephalography and electromyography features in symptomatic infantile epileptic encephalopathy with late-onset spasms.
Neuropediatrics
; 45(1): 36-41, 2014 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-24122274
13.
Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis.
Pediatr Int
; 56(1): 112-5, 2014 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-24548198
14.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Int J Neonatal Screen
; 10(1)2024 Feb 20.
Artículo
Inglés
| MEDLINE | ID: mdl-38390979
15.
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Mol Genet Metab
; 108(3): 172-7, 2013 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-23375472
16.
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
Pediatr Int
; 55(6): 775-8, 2013 Dec.
Artículo
Inglés
| MEDLINE | ID: mdl-24330285
17.
Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process.
Int J Neonatal Screen
; 9(3)2023 Jul 14.
Artículo
Inglés
| MEDLINE | ID: mdl-37489492
18.
[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
Rinsho Shinkeigaku
; 63(10): 656-660, 2023 Oct 25.
Artículo
Japonés
| MEDLINE | ID: mdl-37779023
19.
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.
JIMD Rep
; 64(1): 3-9, 2023 Jan.
Artículo
Inglés
| MEDLINE | ID: mdl-36636595
20.
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Int J Neonatal Screen
; 9(4)2023 Oct 27.
Artículo
Inglés
| MEDLINE | ID: mdl-37987475