1. 2‐year‐old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency. (6th June 2014) Authors: Ho, Cynthia H; Thomas, Michelle; McGuire, Elizabeth; Yano, Shoji Journal: Journal of paediatrics and child health Issue: Volume 50:Number 11(2014:Nov.) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature. Issue 6 (1st May 2013) Authors: Kosho, Tomoki; Okamoto, Nobuhiko; Ohashi, Hirofumi; Tsurusaki, Yoshinori; Imai, Yoko; Hibi‐Ko, Yumiko; Kawame, Hiroshi; Homma, Tomomi; Tanabe, Saori; Kato, Mitsuhiro; Hiraki, Yoko; Yamagata, Takanori; Yano, Shoji; Sakazume, Satoru; Ishii, Takuma; Nagai, Toshiro; Ohta, Tohru; Niikawa, Norio; Mizun... Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis. Issue 2 (27th July 2013) Authors: Yano, Shoji; Moseley, Kathryn; Wong, Lawrence; Castelnovi, Claudia; Azen, Colleen; Pavlova, Zdena Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 2(2014) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease). (4th May 2018) Authors: Warren, Mikako; Mierau, Gary; Wartchow, Eric P.; Shimada, Hiroyuki; Yano, Shoji Journal: Ultrastructural pathology Issue: Volume 42:Number 3(2018) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Large soft‐tissue masses in an adult patient with Gaucher disease. Issue 6 (9th August 2016) Authors: Mahajan, Neha; Brynes, Russell; Yano, Shoji Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 6(2016) Page Start: 887 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects. Issue 1 (20th June 2013) Authors: Yano, Shoji; Moseley, Kathryn; Bottiglieri, Teodoro; Arning, Erland; Azen, Colleen Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation. Issue 3 (29th January 2013) Authors: Miyake, Noriko; Yano, Shoji; Sakai, Chika; Hatakeyama, Hideyuki; Matsushima, Yuichi; Shiina, Masaaki; Watanabe, Yoriko; Bartley, James; Abdenur, Jose E.; Wang, Raymond Y.; Chang, Richard; Tsurusaki, Yoshinori; Doi, Hiroshi; Nakashima, Mitsuko; Saitsu, Hirotomo; Ogata, Kazuhiro; Goto, Yu‐ichi; Mat... Journal: Human mutation Issue: Volume 34:Issue 3(2013:Mar.) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome. Issue 5 (12th September 2018) Authors: Yano, Shoji; Fujimoto, Atsuko; Morin‐Leisk, Jeanne; Matumoto, Naomichi; Miyake, Noriko; Gillespie, Meghan; Gao, Harry Journal: Clinical genetics Issue: Volume 94:Issue 5(2018) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors. (17th October 2014) Authors: Moseley, Kathryn D.; Ottina, Martha J.; Azen, Colleen G.; Yano, Shoji Journal: CNS spectrums Issue: Volume 20:Number 2(2015:Apr.) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy. Issue 2 (28th November 2019) Authors: Mahajan, Neha; Warren, Mikako; Yano, Shoji Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗