Works matching Congenital disorders
Results: 5000
16 例儿童先天性纤维蛋白原病的临床表型和基因型分析.
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- Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 8, p. 840, doi. 10.7499/j.issn.1008-8830.2403064
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- Article
Addressing the impact of SARS‐CoV‐2 infection in persons with congenital bleeding disorders: The Italian MECCOVID‐19 study.
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- Haemophilia, 2021, v. 27, n. 4, p. e575, doi. 10.1111/hae.14331
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- Article
Low endoscopy bleeding risk in patients with congenital bleeding disorders.
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- Haemophilia, 2019, v. 25, n. 2, p. 289, doi. 10.1111/hae.13691
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- Article
Prevalence of coat colour traits and congenital disorders of South American camelids in Austria, Germany and Switzerland.
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- Acta Veterinaria Scandinavica, 2020, v. 62, n. 1, p. N.PAG, doi. 10.1186/s13028-020-00554-y
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- Article
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03557-y
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- Article
Varied presentations of congenital ocular synkinesis: do they all fit congenital cranial dysinnervation disorder spectrum?
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- Arquivos Brasileiros de Oftalmologia, 2021, v. 84, n. 4, p. 374, doi. 10.5935/0004-2749.20210065
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- Article
High‐resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.
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- Journal of Separation Science, 2018, v. 41, n. 13, p. 2808, doi. 10.1002/jssc.201800082
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- Article
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).
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- Pediatric Radiology, 2014, v. 44, n. 2, p. 222, doi. 10.1007/s00247-013-2782-2
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- Article
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
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- American Orthoptic Journal, 2015, v. 65, n. 1, p. 58, doi. 10.3368/aoj.65.1.58
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- Article
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
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- 2021
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- journal article
Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.
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- 2022
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- Case Study
Mosaicism of the UDP-Galactose transporter <italic>SLC35A2</italic> in a female causing a congenital disorder of glycosylation: a case report.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0617-6
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- Article
Mirror Movements and Dystonia in SRD5A3‐Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 3, p. 510, doi. 10.1002/mdc3.13627
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- Article
Aktivita fosfomanomutázy 2 u pacientů s podezřením na dědičnou poruchu glykosylace.
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- Klinická Biochemie a Metabolismus, 2016, v. 24, n. 2, p. 67
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- Article
Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1019283
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- Article
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
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- Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-7
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- Article
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG).
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 24, doi. 10.1515/tjb-2024-0011
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- Article
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
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- Glycobiology, 2022, v. 32, n. 2, p. 84, doi. 10.1093/glycob/cwab087
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- Article
Congenital Disorders of Glycosylation from a Neurological Perspective.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 88, doi. 10.3390/brainsci11010088
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- Article
Clinical features and genetic defect in six index patients with congenital fibrinogen disorders: Three novel mutations with one common mutation in Taiwan's population.
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- Haemophilia, 2021, v. 27, n. 6, p. 1022, doi. 10.1111/hae.14399
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- Article
Male gender, school attendance and sports participation are positively associated with health‐related quality of life in children and adolescents with congenital bleeding disorders.
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- Haemophilia, 2018, v. 24, n. 3, p. 395, doi. 10.1111/hae.13420
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- Article
A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1402883
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- Article
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
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- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2092, doi. 10.3390/jcm9072092
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- Article
Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
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- 2024
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- Case Study
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2197
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- Article
Hyperkinetic movement disorders in congenital disorders of glycosylation.
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- European Journal of Neurology, 2019, v. 26, n. 9, p. 1226, doi. 10.1111/ene.14007
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- Article
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03389-2
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- Article
People with congenital bleeding disorders perspectives on why dentists refused to treat them: An exploratory qualitative study using a card sorting technique.
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- Special Care in Dentistry, 2022, v. 42, n. 6, p. 575, doi. 10.1111/scd.12713
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- Article
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438
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- Article
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 262, doi. 10.3390/diagnostics11020262
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- Article
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869031
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- Article
Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.
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- Case Reports in Ophthalmology, 2018, v. 9, n. 1, p. 102, doi. 10.1159/000485832
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- Article
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
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- Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359
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- Article
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
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- Genes, 2021, v. 12, n. 8, p. 1227, doi. 10.3390/genes12081227
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- Article
In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report.
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- Genes, 2020, v. 11, n. 6, p. 697, doi. 10.3390/genes11060697
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Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.
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- Molecular Brain, 2013, v. 6, n. 1, p. 2, doi. 10.1186/1756-6606-6-52
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Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
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- BMC Research Notes, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13104-023-06314-1
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- Article
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1350101
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- Article
Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03043-x
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- Article
Congenital disorders of glycosylation (CDG): state of the art in 2022.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02879-z
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- Article
Congenital disorders of glycosylation: narration of a story through its patents.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02852-w
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- Article
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives.
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- Journal of Rare Diseases, 2022, v. 1, n. 1, p. 1, doi. 10.1007/s44162-022-00003-6
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- Article
Congenital Cranial Dysinnervation Disorders: A Literature Review.
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- American Orthoptic Journal, 2017, v. 67, n. 1, p. 89, doi. 10.1080/0065955X.2017.12023638
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- Article
Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.
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- Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
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- Article
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
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- Clinical Genetics, 2015, v. 87, n. 5, p. 455, doi. 10.1111/cge.12417
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- Article
Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1191, doi. 10.3390/ijms25021191
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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
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- 2022
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- Literature Review
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7635, doi. 10.3390/ijms21207635
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- Article
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4654, doi. 10.3390/ijms21134654
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- Article
Ties That Blind: A Longitudinal Study on Consanguinity and Congenital Disorders in Kabirwala, Pakistan.
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- Qualitative Report, 2023, v. 28, n. 11, p. 3169, doi. 10.46743/2160-3715/2023.6120
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- Article