Issue 3 (2024)

Summary

Articles

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned
Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report
Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil
CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia
Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand
Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework
Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
Charting the Course: Towards a Comprehensive Newborn Screening Program in India
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening
Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec
Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis
Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study
Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents
by Gwendolyn Gramer,Saskia B. Wortmann,Junmin Fang-Hoffmann,Dirk Kohlmüller,Jürgen G. Okun,Holger Prokisch,Thomas Meitinger andGeorg F. Hoffmann
History of Neonatal Screening of Congenital Hypothyroidism in Portugal
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan
Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences
Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia
A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The Netherlands
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events
Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China
A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria
Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey
Managing Newborn Screening Repeat Collections for Sick and Preterm Neonates
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
A Qualitative Study on Engaged Families’ Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening System
Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories
Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1
Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States
Systematic Review of Presymptomatic Treatment for Spinal Muscular Atrophy
Continuity of Operations in Newborn Screening: Lessons Learned from Three Incidents
Four new nodulose-spored species of Inocybe (Agaricales) from West Africa
Penicillium poederi and P. tirolense, two new species of section Torulomyces
Globisporangium coniferarum sp. nov., associated with conifers and Quercus spp.
Unravelling the fungal darkness in a tropical cave: richness and the description of one new genus and six new species
Miracula blauvikensis: a new species of Miracula from Iceland, and report of a co-cultivation system for studying oomycete-diatom interactions
Fusarium diversity associated with the Sorghum-Striga interaction in Ethiopia
Spirodecosporaceae fam. nov. (Xylariales, Sordariomycetes) and two new species of Spirodecospora
Two new species of Phaeohelotium (Leotiomycetes: Helotiaceae) from Chile and their putative ectomycorrhizal status
Cylindromonium dirinariae sp. nov. (Ascomycota, Hypocreales), a new nectrioid lichenicolous species on Dirinaria applanata in Japan
New records and barcode sequence data of wood-inhabiting polypores in Benin with notes on their phylogenetic placements and distribution
Phyllosticta rizhaoensis sp. nov. causing leaf blight of Ophiopogon japonicus in China
Two novel endophytic Tolypocladium species identified from native pines in south Florida
Hydnum atlanticum, a new species from Eastern North America
Additions to the knowledge of the genus Helvella in Europe. New records and de novo description of five species from the Nordic region
Freshwater ascomycetes from southern Australia: Melanascomaceae fam. nov., Melanascoma panespora gen. et. sp. nov., and Pleurothecium brunius sp. nov.
Adding a missing piece to the puzzle of oomycete phylogeny: the placement of Rhipidium interruptum (Rhipidiaceae)
Melanodevriesia, a new genus of endolichenic oleaginous black yeast recovered from the Inner Mongolia Region of China
Neohygrocybe pseudoingrata, a new grassland species from Slovakia and the Czech Republic
Paraphoma garibaldii sp. nov. causing leaf spot disease of Campanula rapunculoides in Italy
Dendrodacrys: a new genus for species with branched hyphidia in Dacrymyces s.l., with the description of four new species
Peronosporaceae species causing downy mildew diseases of Poaceae, including nomenclature revisions and diagnostic resources
Contributions to the revision of the genus Entoloma (Basidiomycota, Agaricales) in Europe: six new species from subgenus Cyanula and typification of E. incarnatofuscescens
Mammalian mycophagy: A global review of ecosystem interactions between mammals and fungi