NSTL国家科技图书文献中心

1. Valproic Acid-Induced Congenital Disorders, an Analysis in EudraVigilance and a Literature Review of Valproic Acid Utilization During Pregnancy NSTL国家科技图书文献中心

Huruba, Madalina | Farcas, Andreea ... - 《Pharmacoepidemiology and drug safety》 - 2025,34(6) - e70134～e70134 - 共18页

摘要：-induced congenital* disorders were identified (2068* | pregnancy. We evaluated VPA-induced congenital disorder | number of VPA-induced congenital* disorder reports* | increase the risk of congenital* malformations during* | database of reports was searched for congenital* ADRs for*

关键词： congenital disorders | EudraVigilance | valproic acid

2. The Therapeutic Future for Congenital Disorders of Glycosylation NSTL国家科技图书文献中心

Muffels, I. J. J. | Kozicz, T.... - 《Journal of inherited metabolic disease》 - 2025,48(2) - e70011～e70011 - 共20页

摘要： congenital disorders of glycosylation (CDG) have advanced | The past decade, novel treatment options for | rapidly. Innovative therapies, targeting both the root | cause, the affected metabolic pathways, and resulting | manifestations, have transitioned from the research stage to

关键词： basket trials | CDG | clinical trial readiness | congenital disorder of glycosylation | disease models | glycosylation | novel therapies

3. Computational profiling of molecular biomarkers in congenital disorders of glycosylation Type-I and binding analysis of Ginkgolide A with P4HB NSTL国家科技图书文献中心

Muhammad Rahiyab | Ishaq Khan ... - 《Computers in Biology and Medicine》 - 2025,190 - Article 110042～Article 110042 - 共15页

摘要：Aims: Congenital* disorders of glycosylation* | signatures involved in CDG-I (Congenital* Disorders of* | (CDG) comprise a diverse group of genetic diseases | characterized by aberrant glycosylation that leads to severe | multi-systematic effects. Despite advancements in

关键词： ADME; Active sites; CDG-I; GA; GO and KEGG pathways; Hub gene (P4HB); MD simulation; Microarray

4. Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations NSTL国家科技图书文献中心

Holubova, Veronika | Barone, Rita ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12826～e12826 - 共14页

摘要： 2-congenital* disorders of glycosylation (PMM2-CDG* | Cardiac involvement (CI) in phosphomannomutase | ) is part of the multisystemic presentation | contributing to high mortality rates. The most common cardiac | manifestations are pericardial effusion, cardiomyopathy, and

关键词： cardiac involvement | CDG | p.(Val231Met) genotype-phenotype correlations | pericardial effusion | PMM2 | p.(Val231Met) genotype–phenotype correlations

5. Phenotype, genotype, and laboratory assessment of congenital fibrinogen disorders: Data from the Rare Bleeding disorders in the Netherlands study NSTL国家科技图书文献中心

Haisma, Bauke | Rijpma, Sanna R.... - 《Thrombosis Research》 - 2025,249 - Article 109317～Article 109317 - 共10页

摘要：Introduction: Congenital fibrinogen disorders | (CFDs), encompassing quantitative (hypo | -/afibrinogenemia) and qualitative (dysfibrinogenemia) defects | , can result in bleeding or thrombotic events. This | study aimed to enhance understanding of the clinical

关键词： Congenital fibrinogen disorders | Hypofibrinogenemia | Dysfibrinogenemia | Bleeding | Thrombosis | Genotyping | Thrombin generation

6. An update on autophagy disorders NSTL国家科技图书文献中心

Dafsari, Hormos Sali... | Martinelli, Diego ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12798～e12798 - 共19页

摘要：, congenital* disorders of autophagy, due to monogenic defects* | congenital disorder of autophagy, the widespread use of | monogenic disorders* linking selective autophagy, vesicular* | molecular and phenotypical spectrum of congenital | disorders of autophagy as a clinical disease spectrum

关键词： autophagy | cellular trafficking | congenital disorders | neurodegeneration | neurodevelopment

7. Expression of Wnt signaling proteins in rare congenital bladder disorders NSTL国家科技图书文献中心

Xie, Boyu | Millar, Michael ... - 《Journal of pediatric urology》 - 2025,21(1) - 2～10 - 共9页

摘要： rare congenital* bladder disorders: bladder exstrophy* | Introduction and aims Congenital* bladder* | complex dysregulation of the Wnt pathway in congenital | bladder disorders. Conclusion Wnt signaling-related | proteins show dysregulation in congenital* bladder*

关键词： Bladder exstrophy | Neurogenic bladder | Posterior urethral valves | Wnt signaling pathways | FRA1 | Connexin 43

8. Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG) NSTL国家科技图书文献中心

Weixel, Tara | Adedipe, Dee ... - 《Journal of inherited metabolic disease》 - 2025,48(1) - e12782～e12782 - 共11页

摘要： type of congenital* disorders of glycosylation, is* | and Suspected Congenital* Disorders of Glycosylation* | this cohort were neurodevelopmental disorders | , peripheral neuropathy, movement disorders, ophthalmological | PMM2-CDG (formerly CDG-1a), the most common

关键词： congenital disorders of glycosylation | intellectual disability | neurodevelopment | neuropsychological assessment | phosphomannomutase deficiency

9. New evidence supporting female protective effect in patients with congenital anomalies and neurodevelopmental disorders NSTL国家科技图书文献中心

Maksimovic, Nela | Damnjanovic, Tatjana ... - 《Early human development》 - 2025,205 - 106269～106269 - 共7页

摘要： % among patients with congenital* anomalies and* | neurodevelopmental disorders, the primary indications for the | neurodevelopmental disorders* with other comorbidities. Females have* | ). Higher diagnostic yield is revealed for congenital | The influence of chromosomal sex on human

关键词： Sex bias | Diagnostic yield | Chromosomal microarray | Neurodevelopmental disorders | Phenotype

10. Neurodevelopmental and Neuropsychiatric Perspectives on Respiratory Control: Understanding Congenital and Developmental Disorders NSTL国家科技图书文献中心

Amore, Greta | Grella, Maria ... - 《Current respiratory medicine reviews》 - 2025,21(1) - 59～71 - 共13页

摘要： result in complex and heterogeneous disorders | associated neurodevelopmental disorders* (NDDs) deriving* | relation between respiratory implications and congenital | and developmental disorders. | Breathing is an automatic process generated by

关键词： Brainstem | breathing | cerebellum | neurodevelopmental and neuropsychiatric disorders | respiratory control and modulation | rhytmogenesis | respiratory central pattern generator

摘要：-induced congenital disorders were identified (2068 | pregnancy. We evaluated VPA-induced congenital disorder | number of VPA-induced congenital disorder reports | increase the risk of congenital malformations during | database of reports was searched for congenital ADRs for

关键词： congenital disorders | EudraVigilance | valproic acid

摘要： congenital disorders of glycosylation (CDG) have advanced | The past decade, novel treatment options for | rapidly. Innovative therapies, targeting both the root | cause, the affected metabolic pathways, and resulting | manifestations, have transitioned from the research stage to

关键词： basket trials | CDG | clinical trial readiness | congenital disorder of glycosylation | disease models | glycosylation | novel therapies

摘要：Aims: Congenital disorders of glycosylation | signatures involved in CDG-I (Congenital Disorders of | (CDG) comprise a diverse group of genetic diseases | characterized by aberrant glycosylation that leads to severe | multi-systematic effects. Despite advancements in

关键词： ADME; Active sites; CDG-I; GA; GO and KEGG pathways; Hub gene (P4HB); MD simulation; Microarray

摘要： 2-congenital disorders of glycosylation (PMM2-CDG | Cardiac involvement (CI) in phosphomannomutase | ) is part of the multisystemic presentation | contributing to high mortality rates. The most common cardiac | manifestations are pericardial effusion, cardiomyopathy, and

关键词： cardiac involvement | CDG | p.(Val231Met) genotype-phenotype correlations | pericardial effusion | PMM2 | p.(Val231Met) genotype–phenotype correlations

摘要：Introduction: Congenital fibrinogen disorders | (CFDs), encompassing quantitative (hypo | -/afibrinogenemia) and qualitative (dysfibrinogenemia) defects | , can result in bleeding or thrombotic events. This | study aimed to enhance understanding of the clinical

关键词： Congenital fibrinogen disorders | Hypofibrinogenemia | Dysfibrinogenemia | Bleeding | Thrombosis | Genotyping | Thrombin generation

摘要：, congenital disorders of autophagy, due to monogenic defects | congenital disorder of autophagy, the widespread use of | monogenic disorders linking selective autophagy, vesicular | molecular and phenotypical spectrum of congenital | disorders of autophagy as a clinical disease spectrum

关键词： autophagy | cellular trafficking | congenital disorders | neurodegeneration | neurodevelopment

摘要： rare congenital bladder disorders: bladder exstrophy | Introduction and aims Congenital bladder | complex dysregulation of the Wnt pathway in congenital | bladder disorders. Conclusion Wnt signaling-related | proteins show dysregulation in congenital bladder

关键词： Bladder exstrophy | Neurogenic bladder | Posterior urethral valves | Wnt signaling pathways | FRA1 | Connexin 43

摘要： type of congenital disorders of glycosylation, is | and Suspected Congenital Disorders of Glycosylation | this cohort were neurodevelopmental disorders | , peripheral neuropathy, movement disorders, ophthalmological | PMM2-CDG (formerly CDG-1a), the most common