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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
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