日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion

基于琥珀酰丙酮排泄减少,验证尼替西酮治疗1型酪氨酸血症患者的治疗范围

Jack, Rhona M; Scott, C Ronald

Specific Substrate for the Assay of Lysosomal Acid Lipase.

溶酶体酸性脂肪酶测定的特异性底物

Masi Sophia, Chennamaneni Naveen, Turecek Frantisek, Scott C Ronald, Gelb Michael H

Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

利用串联质谱法检测干血斑(DBS)中的粘多糖贮积症III-A(圣菲利波综合征-A)

Yi, Fan; Hong, Xinying; Kumar, Arun Babu; Zong, Chengli; Boons, Geert-Jan; Scott, C Ronald; Turecek, Frantisek; Robinson, Bruce H; Gelb, Michael H

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry

国际协作戈谢病组(ICGG)戈谢病登记处20年间,接受阿糖苷酶/伊米糖苷酶替代疗法治疗的1型戈谢病患者的治疗前表现发生了转变

Mistry, Pramod K; Batista, Julie L; Andersson, Hans C; Balwani, Manisha; Burrow, Thomas Andrew; Charrow, Joel; Kaplan, Paige; Khan, Aneal; Kishnani, Priya S; Kolodny, Edwin H; Rosenbloom, Barry; Scott, C Ronald; Weinreb, Neal

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

I型酪氨酸血症的诊断和治疗:美国和加拿大共识小组的审查和建议

Chinsky, Jeffrey M; Singh, Rani; Ficicioglu, Can; van Karnebeek, Clara D M; Grompe, Markus; Mitchell, Grant; Waisbren, Susan E; Gucsavas-Calikoglu, Muge; Wasserstein, Melissa P; Coakley, Katie; Scott, C Ronald

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

I型无症状酪氨酸血症,无酪氨酸或琥珀酰丙酮水平升高,伴有肝硬化和肝细胞癌

Blackburn, Patrick R; Hickey, Raymond D; Nace, Rebecca A; Giama, Nasra H; Kraft, Daniel L; Bordner, Andrew J; Chaiteerakij, Roongruedee; McCormick, Jennifer B; Radulovic, Maja; Graham, Rondell P; Torbenson, Michael S; Tortorelli, Silvia; Scott, C Ronald; Lindor, Noralane M; Milliner, Dawn S; Oglesbee, Devin; Al-Qabandi, Wafa'a; Grompe, Markus; Gavrilov, Dimitar K; El-Youssef, Mounif; Clark, Karl J; Atwal, Paldeep S; Roberts, Lewis R; Klee, Eric W; Ekker, Stephen C

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

利用串联质谱法对新生儿进行六种溶酶体贮积症筛查的初步研究

Elliott, Susan; Buroker, Norman; Cournoyer, Jason J; Potier, Anna M; Trometer, Joseph D; Elbin, Carole; Schermer, Mack J; Kantola, Jaana; Boyce, Aaron; Turecek, Frantisek; Gelb, Michael H; Scott, C Ronald

Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

成人脊髓神经病和肢体挛缩患者磷酸丝氨酸磷酸酶缺乏症的新报告

Byers, Heather M; Bennett, Robin L; Malouf, Emily A; Weiss, Michael D; Feng, Jie; Scott, C Ronald; Jayadev, Suman

Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures

勘误:关于一例患有脊髓神经病和肢体挛缩的成人患者出现磷酸丝氨酸磷酸酶缺乏症的新报告

Byers, Heather M; Bennett, Robin L; Malouf, Emily A; Weiss, Michael D; Feng, Jie; Scott, C Ronald; Jayadev, Suman

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation

先天性蔗糖酶-异麦芽糖酶缺乏症:鉴定出一种常见的因纽特人创始突变

Marcadier, Julien L; Boland, Margaret; Scott, C Ronald; Issa, Kheirie; Wu, Zaining; McIntyre, Adam D; Hegele, Robert A; Geraghty, Michael T; Lines, Matthew A