logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
返回期刊详情
I

International Journal of Neonatal Screening

IF4
论文数695
被引数1407
期刊论文 695
发表时间
delete
A Decade of Neonatal Inherited Metabolic Disorder Screening Experience in Ningbo, China: Screening Performance, Disease Spectrum, and Genetic Characteristics宁波新生儿遗传代谢病筛查十年经验：筛查性能、疾病谱和遗传特征
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-30
delete0
deleteOAAI
deleteFei Wang; Xiangchun Yang; Danyan Zhuang; Qiong Li; Lulu Yan; Zhen Yang; Shuxia Ding; Hehe Chen; Shanshan Wu; Qi Yu
delete分享
delete收藏
A Call to Action: A Roadmap Towards Optimized Care of Phenylketonuria in Morocco行动呼吁：摩洛哥苯丙酮尿症优化护理路线图
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-29
delete0
deleteOAAI
deleteAmina Barkat; Abdelahak Abkari; Abdallah Oulmaati; Abderrahmane Haddourha; Amale Yassine; Amine Cheikh; Ettair Said; Fatiha Abderraziq; Kaoutar Khabbache; Rita Ojeil
delete分享
delete收藏
Five Years of Newborn Screening for Lysosomal Disorders in Indiana五年新生儿筛查在印第安纳州对溶酶体疾病的筛查
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-29
delete0
deleteOAAI
deleteMiranda Garrett; Allison Church; Brett H. Graham; Miriam Kim; Barbara Lesko; John Jerry Parent; Katie Sapp; Courtney Slack; Molly McPheron
delete分享
delete收藏
Haemoglobinopathies in Newborn Screening: Epidemiological Findings and Exploratory Analysis of HbA0 Distribution in a Population-Based Neonatal Cohort from Northern Italy新生儿筛查中的血红蛋白病：一项来自意大利北部基于人群的新生儿队列的流行病学发现和对HbA0分布的探索性分析
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-29
delete0
deleteOAAI
deleteLuca Giacomini; Sara Sacchetti; Enza Pavanello; Luiselda Foglia; Simona Natalina Mellone; Giulia Borgonovi; Ivana Rabbone; Alice Monzani; Margherita Palmeri; Roberta Rolla
delete分享
delete收藏
Facilitators and Barriers Influencing Parental Acceptance of Newborn Screening in Pakistan: A Multicenter Study影响巴基斯坦新生儿筛查家长接受度的促进因素和障碍因素：一项多中心研究
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-28
delete0
deleteOAAI
deleteFarah Shams Abbasi; Nazia Shamim; Farhana Shams Abbasi; Suneeta Namdave; Hafsa Zaheer; Warda Khalid; Hafsa Majid
delete分享
delete收藏
Laboratory-Positive Findings for Six Lysosomal Storage Disorders in Pediatric Dried Blood Spot Samples from Uzbekistan: A 2025 Retrospective Descriptive Study乌兹别克斯坦儿科干血斑样本中六种溶酶体贮积症的实验室阳性发现：一项2025年回顾性描述研究
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-21
delete0
deleteOAAI
deleteAbdumalik Nigmatovich Aripov; Abdumannap Abdumadjitovich Abdukayumov; Lola Lazizovna Akhundjanova; Sabokhatkhon Mukhiddin kizi Ergasheva; Islom Rahimjon o’g’li Urinboyev
delete分享
delete收藏
A Systematic Review of Metachromatic Leukodystrophy Newborn Screening: Transitioning from Pilot Studies to the Real World对异染性脑白质营养不良新生儿筛查的系统综述：从试点研究到实际应用
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-19
delete0
deleteOAAI
deleteSamuel Waser; Simone Kistler; Laura A. Adang; Paul J. Orchard; Alexandre N. Datta; Neal Sondheimer; Henrik Köhler; Daniel Drozdov
delete分享
delete收藏
Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy知情同意的先天性巨细胞病毒感染新生儿筛查：使用干血斑和干唾液斑样本的实施和相对程序准确性
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-13
delete0
deleteOAAI
deleteEmeril Santander; Emily Reuvers; Melanie Lacaria; Stacey Hume; Zeinab Moazin; Lauren Gallagher; Danielle Durie; Alan Mears; Kristin D. Kernohan; Soren Gantt; Ari Bitnun; Jessica K. E. Dunn; Pranesh Chakraborty; Jason Brophy
delete分享
delete收藏
Dried Urine Spots for Quantification of C0 (Free) Carnitine Excretion: A Validated Method for Follow-Up and Confirmatory Testing of Primary Carnitine Deficiency干燥尿液斑点用于游离肉碱（C0）排泄量的测定：一种用于原发性肉碱缺乏症随访和确认检测的验证方法
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-12
delete0
deleteOAAI
deleteMaria van der Ham; Sacha Ferdinandusse; Mirjam Langeveld; Sabine A. Fuchs; Monique G. M. de Sain van der Velden; on behalf of the ODIN Study Group
delete分享
delete收藏
Beyond Newborn Screening: Clinical Outcomes and Genotypic Spectrum Underlying Maple Syrup Urine Disease in Mexico超越新生儿筛查：墨西哥枫糖尿病的临床结局与基因型谱
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-12
delete0
deleteOAAI
deleteMarcela Vela-Amieva; Miriam Erandi Reyna-Fabián; Liliana Fernández-Hernández; Sara Guillén-López; Lizbeth López-Mejía; Miguel Angel Alcantara-Ortigoza; Ariadna Gonzalez-del Angel; Bernardette Estandía-Ortega; Isabel Ibarra-González; Laura Paz-Castillo; Cynthia Fernández-Lainez
delete分享
delete收藏
Parental Perceptions and Decision-Making Processes Regarding Expanded Newborn Screening: A Qualitative Study家长对扩展新生儿筛查的认知和决策过程：一项定性研究
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-05
delete0
deleteOAAI
deleteMasashi Harazaki; Yuka Wada; Mami Notake; Naoki Takabayashi; Fumi Kurebayashi; Philip Hawke; Taichi Hatta; Takeshi Usui; Hiroshi Yamazaki
delete分享
delete收藏
Statewide Universal Newborn Screening for Human Immunodeficiency Virus全省范围的人类免疫缺陷病毒新生儿普遍筛查
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-03
delete0
deleteOAAI
deleteNorma P. Tavakoli; Melissa Pearce; Richard Sejour; Daniele-Marisa Stansfield; Marilyn Erickson; Rebecca McMahon
delete分享
delete收藏
The Current Perspective, Ethical Considerations, and a Position Statement on Expanded Newborn Screening from the College of Paediatrics, Academy of Medicine of Malaysia马来西亚医学院儿科学院对扩展新生儿筛查的当前观点、伦理考量及立场声明
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-01
delete0
deleteOAAI
deleteErwin Jiayuan Khoo; Meow Keong Thong; Sin Chuen Yong; Seok Chiong Chee; Jimmy Kok Foo Lee; Siao Hean Teh; Fahisham Taib; Adli Ali; Fook Choe Cheah
delete分享
delete收藏
Newborn Screening for X-Linked Adrenoleukodystrophy: A Systematic Literature Review新生儿筛查X连锁肾上腺脑白质营养不良：一项系统文献综述
deleteInternational Journal of Neonatal Screening
IF4
delete2026-10-01
delete0
deleteOAAI
deleteMaría Isabel Cabrera-González; Yolanda De Diego-Otero; Raquel Yahyaoui
delete分享
delete收藏
Communication of Screen-Positive Newborn Bloodspot Screening Results for Metabolic Conditions in Ireland–Parent and Healthcare Professional Experience: A Service Evaluation爱尔兰代谢性疾病筛查阳性新生儿血斑筛查结果沟通——家长和医疗专业人员经验：一项服务评估
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-29
delete0
deleteOAAI
deleteMairéad Bracken-Scally; Anna O’Loughlin; Jenny McNulty; Olivia Walsh; Caoimhe Howard; Ahmad Ardeshir Monavari; Abigail Collins; Heather Burns
delete分享
delete收藏
Making Newborn Screening Work in Low- and Middle-Income Countries: From Global Commitment to Sustainable Action—The WHO Framework让新生儿筛查在低收入和中等收入国家发挥作用：从全球承诺到可持续行动——世界卫生组织框架
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-28
delete0
deleteOAAI
deleteBradford L. Therrell; Carmencita D. Padilla
delete分享
delete收藏
Expanding Conditions for Newborn Screening—Findings from an Untargeted Metabolomics and Lipidomics Discovery Study新生儿筛查条件的扩展——一项无目标代谢组学和脂质组学发现的发现研究
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-28
delete0
deleteOAAI
deleteAlex J. Ashenden; Tomas Rozek; Lucy Anastasi; Ayesha Chowdhury; Khoa Lam; Carol Wai-Kwan Siu; Jovanka King; Tracy Merlin; Nicholas Smith; Karin S. Kassahn
delete分享
delete收藏
Strengthening Newborn Screening, Diagnosis and Management of Birth Defects in Low- and Middle-Income Countries: A Priority for WHO Member States加强低收入和中等收入国家新生儿筛查、诊断和管理出生缺陷：世界卫生组织会员国的优先事项
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-24
delete0
deleteOAAI
deleteAyesha De Costa; Pablo Duran; Rajesh Khanna; Janet Kayita; Khalid Siddeeg
delete分享
delete收藏
Co-Designing a Provincial Newborn Screening Implementation Framework in Pakistan Using a Sequential Blended Workshop Model采用序贯混合工作坊模型设计巴基斯坦省级新生儿筛查实施方案框架
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-11
delete0
deleteOAAI
deleteAysha H. Khan; Lena Jafri; Dianne Webster; Farkhanda Ghafoor; Tariq Zafar; Afzal Saeed; Jaida Manzoor; Fouzia Ishaq; Tayyaba K. Butt; Hafsa Majid
delete分享
delete收藏
Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result正常新生儿筛查结果后意外诊断出的经典同型胱氨酸尿症
deleteInternational Journal of Neonatal Screening
IF4
delete2026-09-05
delete0
deleteOAAI
deleteJosé Manuel González de Aledo-Castillo; Mercedes Casado-Río; Sonia Pajares; Silvia Meavilla Olivas; Laura Gort; Laura Martí Sánchez; Abraham J. Paredes-Fuentes; Leticia Pias-Peleteiro; Marta Gomez-Chiari; Montserrat Quintana Vidaurri; Rosa María López-Galera; Ana Argudo-Ramírez; Jaime Sainz de Medrano; Rafael Artuch Iriberri; Judit García-Villoria; Aída Ormazábal Herrero
delete分享
delete收藏