Shoji Yano
Overview
Explore the profile of Shoji Yano including associated specialties, affiliations and a list of published articles.
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38
Citations
585
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Recent Articles
1.
McGowan R, Yano S
Mol Genet Metab Rep
. 2024 Sep;
41:101138.
PMID: 39286770
3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is an autosomal recessive disorder of leucine metabolism. Since 3-MCC deficiency is thought to be a benign condition, a few newborn screening programs discontinued to screen...
2.
Yano S, McGowan R, Warren M
Mol Genet Metab Rep
. 2024 Jul;
40:101106.
PMID: 38974840
Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated...
3.
Adie M, Martes Gomez M, Yom J, Durand M, Wertheimer F, McGowan R, et al.
J Investig Med High Impact Case Rep
. 2023 Apr;
11:23247096231168111.
PMID: 37085971
We are reporting monochorionic, diamniotic twin premature infants born at 25 weeks and 6 days gestation with riboflavin (vitamin B2) and biotin (vitamin B7) deficiency, while on prolonged total parenteral...
4.
Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas
Yano S, Moseley K, Mahajan N, Warren M, Vachon L
J Pediatr Genet
. 2022 Feb;
11(1):47-50.
PMID: 35186390
Gaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly...
5.
Weng P, Majmundar A, Khan K, Lim T, Shril S, Jin G, et al.
Am J Hum Genet
. 2021 Jan;
108(2):357-367.
PMID: 33508234
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by...
6.
Warren M, Takeda M, Partikian A, Opas L, Fine R, Yano S
Pediatr Nephrol
. 2020 Mar;
35(6):1129-1132.
PMID: 32193649
Background: Focal segmental glomerulosclerosis (FSGS) is an etiologically heterogeneous disorder. Genetic FSGS may be either limited to the kidney or part of a genetic syndrome with other systemic involvement. At...
7.
Warren M, Shimura M, Wartchow E, Yano S
Ultrastruct Pathol
. 2020 Jan;
44(1):32-41.
PMID: 31900039
: Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies.: Clinical charts, histologic...
8.
Mahajan N, Warren M, Yano S
J Inherit Metab Dis
. 2019 Nov;
43(2):375-376.
PMID: 31705761
Soft-tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy (ERT), who presented...
9.
Asakura M, Kim J, Asanuma H, Nakama Y, Tsukahara K, Higashino Y, et al.
EClinicalMedicine
. 2019 Jun;
4-5:10-24.
PMID: 31193597
Background: Secondary prevention in patients with myocardial infarction (MI) is critically important to prevent ischaemic heart failure and reduce social burden. Pioglitazone improves vascular dysfunction and prevents coronary atherosclerosis, mainly...
10.
Ng B, Sosicka P, Agadi S, Almannai M, Bacino C, Barone R, et al.
Hum Mutat
. 2019 Mar;
40(7):908-925.
PMID: 30817854
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of...