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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.
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
en Inglés
| MEDLINE | ID: mdl-35136200
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.
A patient with urinary succinylacetone-negative hereditary tyrosinemia type 1.
Pediatr Int
; 65(1): e15644, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37795850
5.
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
6.
Paroxysmal cold hemoglobinuria caused by an IgM-class Donath-Landsteiner antibody.
Pediatr Int
; 55(5): 664-6, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24134760
7.
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
8.
Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan.
Int J Neonatal Screen
; 7(3)2021 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34287228
9.
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
10.
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
11.
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
12.
A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma.
J Pediatr Endocrinol Metab
; 31(12): 1377-1380, 2018 Dec 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-30367808
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