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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
en Inglés
| MEDLINE | ID: mdl-35400565
2.
Health outcomes of the G7 Hiroshima Summit: breaking the cycle of panic and neglect and achieving UHC.
Lancet
; 401(10394): 2091-2093, 2023 06 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37331365
3.
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
J Hum Genet
; 64(2): 87-98, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30514913
4.
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
5.
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Mol Genet Metab
; 119(4): 322-328, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27856190
6.
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Mol Genet Metab
; 118(1): 9-14, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26947917
7.
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
en Inglés
| MEDLINE | ID: mdl-38390979
8.
Management of advanced-stage neuroblastoma in a patient with 21-hydroxalase deficiency.
Pediatr Int
; 55(4): e96-9, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23910817
9.
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
en Inglés
| MEDLINE | ID: mdl-37987475
10.
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
Intern Med
; 61(9): 1387-1392, 2022 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34670888
11.
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Int J Neonatal Screen
; 7(3)2021 Jun 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34203287
12.
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
Brain Dev
; 43(5): 657-660, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33549404
13.
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
Int J Neonatal Screen
; 7(3)2021 Jul 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34287232
14.
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Hum Genet
; 127(6): 619-28, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20376488
15.
Successful treatment of Kasabach-Merritt syndrome with vincristine and diagnosis of the hemangioma using three-dimensional imaging.
Pediatr Hematol Oncol
; 26(5): 375-80, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19579084
16.
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Dis Markers
; 2019: 2984747, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30881520
17.
A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Am J Med Genet A
; 161A(8): 1980-2, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23813632
18.
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly.
Indian J Pediatr
; 84(1): 83-85, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27581592
19.
A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.
Mol Genet Metab Rep
; 11: 69-71, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28529889
20.
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.
Front Genet
; 8: 210, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29321794