International Journal of Neonatal Screening最新文献_第7页

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England 利益相关者对英格兰囊性纤维化筛查方案中引入新一代测序的建议的看法

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-14 DOI: 10.3390/ijns10010013

Pru Holder, Corinna C. Clark, L. Moody, F. Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, J. Chudleigh

{"title":"Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England","authors":"Pru Holder, Corinna C. Clark, L. Moody, F. Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, J. Chudleigh","doi":"10.3390/ijns10010013","DOIUrl":"https://doi.org/10.3390/ijns10010013","url":null,"abstract":"The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF (n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive—inconclusive diagnosis (CFSPID), an uncertain outcome (n = 3), and adults with CF (n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139838590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England 利益相关者对英格兰囊性纤维化筛查方案中引入新一代测序的建议的看法

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-14 DOI: 10.3390/ijns10010013

Pru Holder, Corinna C. Clark, L. Moody, F. Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, J. Chudleigh

{"title":"Stakeholder Views of the Proposed Introduction of Next Generation Sequencing into the Cystic Fibrosis Screening Protocol in England","authors":"Pru Holder, Corinna C. Clark, L. Moody, F. Boardman, Jacqui Cowlard, Lorna Allen, Claire Walter, James R. Bonham, J. Chudleigh","doi":"10.3390/ijns10010013","DOIUrl":"https://doi.org/10.3390/ijns10010013","url":null,"abstract":"The project aimed to gather, analyse, and compare the views of stakeholders about the proposed UK cystic fibrosis (CF) screening protocol incorporating next generation sequencing (NGS). The study design was based on principles of Q-methodology with a willingness-to-pay exercise. Participants were recruited from 12 CF centres in the UK. The study contained twenty-eight adults who have experience with CF (parents of children with CF (n = 21), including parents of children with CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS)/CF screen positive—inconclusive diagnosis (CFSPID), an uncertain outcome (n = 3), and adults with CF (n = 4)), and nine health professionals involved in caring for children with CF. Parents and health professionals expressed a preference for a sensitive approach to NGS. This was influenced by the importance participants placed on not missing any children with CF via screening and the balance of harm between missing a case of CF compared to picking up more children with an uncertain outcome (CRMS/CFSPID). Given the preference for a sensitive approach, the need for adequate explanations about potential outcomes including uncertainty (CFSPID) at the time of screening was emphasized. More research is needed to inform definitive guidelines for managing children with an uncertain outcome following CF screening.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139778572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate 前事不忘，后事之师：预测新生儿筛查阳性可能带来的社会心理-伦理负担（随着病情发展

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-06 DOI: 10.3390/ijns10010012

Lynn W. Bush, Harvey L. Levy

{"title":"Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate","authors":"Lynn W. Bush, Harvey L. Levy","doi":"10.3390/ijns10010012","DOIUrl":"https://doi.org/10.3390/ijns10010012","url":null,"abstract":"We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum. We explore select facets of ethical and psychological challenges encountered with positive newborn screening findings by highlighting enduring debates to improve the policy process in public health and medicine. We believe substantive empirical research is needed, including long-term follow-up, routine prenatal assessment of tolerance for uncertainties, and especially innovative methodologies to better evaluate potential psychological distress that may be present in some at-risk individuals during the perinatal period preceding and following reports of positive findings. Mitigation strategies building on lessons learned from NBS and clinical follow-up should be implemented and studied. We conclude by pondering why we remain far afield from providing these services. Research directed towards understanding the implications of positive NBS findings will further reduce the burdens on families and care providers alike and should lead to improved communication.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139801904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate 前事不忘，后事之师：预测新生儿筛查阳性可能带来的社会心理-伦理负担（随着病情发展

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-02-06 DOI: 10.3390/ijns10010012

Lynn W. Bush, Harvey L. Levy

{"title":"Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate","authors":"Lynn W. Bush, Harvey L. Levy","doi":"10.3390/ijns10010012","DOIUrl":"https://doi.org/10.3390/ijns10010012","url":null,"abstract":"We look to the past as prologue for guidance in predicting and circumventing potential psychosocial–ethical challenges, including those that may influence the attachment process for some parents. We consider the evolution of bioethics and developmental psychology as they intersect with newborn screening while exploring potential implications of positive findings, be they false positives, true positives, or secondary as well as incidental findings. We reflect on navigating the complex landscape that may be significantly impacted by variable phenotypes, the age of onset, and uncertain prognoses, mindful of the diagnostic odyssey continuum. We explore select facets of ethical and psychological challenges encountered with positive newborn screening findings by highlighting enduring debates to improve the policy process in public health and medicine. We believe substantive empirical research is needed, including long-term follow-up, routine prenatal assessment of tolerance for uncertainties, and especially innovative methodologies to better evaluate potential psychological distress that may be present in some at-risk individuals during the perinatal period preceding and following reports of positive findings. Mitigation strategies building on lessons learned from NBS and clinical follow-up should be implemented and studied. We conclude by pondering why we remain far afield from providing these services. Research directed towards understanding the implications of positive NBS findings will further reduce the burdens on families and care providers alike and should lead to improved communication.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139861570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study. 新生儿普遍筛查背景下先天性耳聋的主要风险因素：我们在四年回顾性研究中的观察。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-30 DOI: 10.3390/ijns10010011

Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon

{"title":"Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.","authors":"Antoine Paul, Fanny Bense, Claire Boithias Guerot, Sofia De La Rubia, Cécile Lebeaux, Jean-François Papon","doi":"10.3390/ijns10010011","DOIUrl":"10.3390/ijns10010011","url":null,"abstract":"It has been demonstrated that universal hearing neonatal screening (UHNS) is efficient at providing early diagnosis and rehabilitation for deafness. The risk factors of deafness in children have been identified, but less specifically in those diagnosed after UHNS. In this study, we aim to study these factors in infants who were referred after screening and to compare our experience to recent data. We studied infants referred to our department for diagnosis after screening between January 2018 and December 2021. Their medical history and neonatal hearing risk factors were assessed. Associations between factors were also analyzed. Sixty-six infants were included. A family history of deafness (47%), syndromic deafness (41%), intrauterine growth retardation or prematurity (19.7%), and prolonged NICU admission (18%) were the most observed factors. When analyzing according to these associations, family history of deafness and syndromic cases remained the most prevalent factors (74%), while only five cases (7.8%) presented with other neonatal risk factors only. The majority of congenital hearing loss cases are observed in infants with suspected genetic deafness. Parental counseling, the diagnostic pathway, as well as the healthcare system should be adapted according to these risk factors.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements. 新生儿克拉伯病筛查：现状和改进建议。

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-28 DOI: 10.3390/ijns10010010

Dietrich Matern, Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge, Patricia L Hall, Joanne Kurtzberg, Joseph J Orsini

{"title":"Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.","authors":"Dietrich Matern, Khaja Basheeruddin, Tracy L Klug, Gwendolyn McKee, Patricia U Edge, Patricia L Hall, Joanne Kurtzberg, Joseph J Orsini","doi":"10.3390/ijns10010010","DOIUrl":"10.3390/ijns10010010","url":null,"abstract":"Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two-tiered strategy based on psychosine (PSY) as the determinant if an NBS result is positive or negative after a first-tier test revealed decreased galactocerebrosidase activity. Nine states currently screening for KD include PSY analysis in their screening strategy. However, the nomination was rejected in February 2023 because of perceived concerns about a high false positive rate, potential harm to newborns with an uncertain prognosis, and inadequate data on presymptomatic treatment benefit or harm. To address the concern about false positive NBS results, a survey was conducted of the eight NBS programs that use PSY and have been screening for KD for at least 1 year. Seven of eight states responded. We found that: (1) the use of PSY is variable; (2) when modeling the data based on the recommended screening strategy for KD, and applying different cutoffs for PSY, each state could virtually eliminate false positive results without major impact on sensitivity; (3) the reason for the diverse strategies appears to be primarily the difficulty of state programs to adjust screening algorithms due to the concern of possibly missing even an adult-onset case following a change that focuses on infantile and early infantile KD. Contracts with outside vendors and the effort/cost of making changes to a program's information systems can be additional obstacles. We recommend that programs review their historical NBS outcomes for KD with their advisory committees and make transparent decisions on whether to accept false positive results for such a devastating condition or to adjust their procedures to ensure an efficient, effective, and manageable NBS program for KD.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg 在圣彼得堡建立新生儿脊髓性肌肉萎缩症筛查试点计划

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-25 DOI: 10.3390/ijns10010009

A. Kiselev, M. Maretina, S. Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il’ina, Svetlana Freund, Natalia Osinovskaya, I. Sultanov, A. Egorova, Anastasia Lobenskaya, A. Koroteev, I. Sosnina, Yulia Gorelik, O. Bespalova, Vladislav Baranov, Igor Kogan, A. Glotov

{"title":"Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg","authors":"A. Kiselev, M. Maretina, S. Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il’ina, Svetlana Freund, Natalia Osinovskaya, I. Sultanov, A. Egorova, Anastasia Lobenskaya, A. Koroteev, I. Sosnina, Yulia Gorelik, O. Bespalova, Vladislav Baranov, Igor Kogan, A. Glotov","doi":"10.3390/ijns10010009","DOIUrl":"https://doi.org/10.3390/ijns10010009","url":null,"abstract":"Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using a real-time PCR assay with dried blood spots (DBS) was performed from January 2022 through November 2022 in Saint Petersburg, which is a representative Russian megapolis. Here, 36,140 newborns were screened by the GenomeX real-time PCR-based screening test, and three genotypes were identified: homozygous deletion carriers (4 newborns), heterozygous carriers (772 newborns), and wild-type individuals (35,364 newborns). The disease status of all four newborns that screened positive for the homozygous SMN1 deletion was confirmed by alternate methods. Two of the newborns had two copies of SMN2, and two of the newborns had three copies. We determined the incidence of spinal muscular atrophy in Saint Petersburg to be 1 in 9035 and the SMA carrier frequency to be 1 in 47. In conclusion, providing timely information regarding SMN1, confirmation of disease status, and SMN2 copy number as part of the SMA newborn-screening algorithm can significantly improve clinical follow-up, testing of family members, and treatment of patients with SMA.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139597203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey 印度尼西亚先天性甲状腺功能减退症新生儿筛查的经验与挑战：全国横断面调查

IF 3.5

International Journal of Neonatal Screening Pub Date : 2024-01-19 DOI: 10.3390/ijns10010008

A. B. Pulungan, H. A. Puteri, Muhammad Faizi, Paul Leslie Hofman, Agustini Utari, J. Chanoine

{"title":"Experiences and Challenges with Congenital Hypothyroidism Newborn Screening in Indonesia: A National Cross-Sectional Survey","authors":"A. B. Pulungan, H. A. Puteri, Muhammad Faizi, Paul Leslie Hofman, Agustini Utari, J. Chanoine","doi":"10.3390/ijns10010008","DOIUrl":"https://doi.org/10.3390/ijns10010008","url":null,"abstract":"The expansion of newborn screening (NBS) for congenital hypothyroidism (CH) is essential to reducing the number of preventable intellectual disabilities in children. Because of logistical issues, including geographic extremes, distinct cultures, and 4.8 million births annually, Indonesia has struggled to achieve universal NBS coverage. A national cross-sectional electronic survey was conducted to explore challenges in CH NBS. Responses from 423 healthcare professionals and program administrators across 30 provinces in Indonesia were collected. The major challenges reported were refusal from families (39.2%), newborns being discharged <24 h (38.3%), and limited availability of filter paper (35.9%). The respondents considered refusal from families to be due to fear, while others did not understand the necessity of CH NBS. The vast majority of respondents believed that parents do not have sufficient understanding regarding CH NBS (96.5%). Our study found that only 38.5% of respondents had received formal CH NBS training, with pediatric endocrinologists being the only profession in which all respondents had been trained. Concerted efforts are needed to improve the access to and availability of resources, increase the capacity for sample collection and analysis, empower healthcare professionals, and develop educational resources to promote understanding and acceptance of NBS amongst families.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":3.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139613249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. 澳大利亚公众对新生儿基因组筛查的看法：风险、益处和实施偏好。

IF 4

International Journal of Neonatal Screening Pub Date : 2024-01-17 DOI: 10.3390/ijns10010006

Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears

{"title":"Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.","authors":"Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark, Danya F Vears","doi":"10.3390/ijns10010006","DOIUrl":"10.3390/ijns10010006","url":null,"abstract":"Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.","PeriodicalId":14159,"journal":{"name":"International Journal of Neonatal Screening","volume":null,"pages":null},"PeriodicalIF":4.0,"publicationDate":"2024-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. 一例在新生儿筛查中发现的 DNAJC12 缺失型高苯丙氨酸血症：早期检测的临床结果。

IF 4

International Journal of Neonatal Screening Pub Date : 2024-01-17 DOI: 10.3390/ijns10010007

Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

引用次数: 0