Works matching X-linked genetic disorders
Results: 878
X-Linked CGD Chorioretinitis in Two Young Girls.
- Published in:
- Biomedicines, 2025, v. 13, n. 2, p. 323, doi. 10.3390/biomedicines13020323
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- Publication type:
- Article
When sex matters: a complete model of X-linked diseases.
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- International Journal of General Systems, 2018, v. 47, n. 6, p. 549, doi. 10.1080/03081079.2018.1473391
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- Publication type:
- Article
Respiratory capacity is maintained despite Duchenne muscular dystrophy‐related diaphragm weakness.
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- Journal of Physiology, 2019, v. 597, n. 12, p. 2973, doi. 10.1113/JP278100
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- Publication type:
- Article
Recent Advances in Gene Therapy for Hemophilia: Projecting the Perspectives.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 854, doi. 10.3390/biom14070854
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- Publication type:
- Article
Ornithine Transcarbamylase – From Structure to Metabolism: An Update.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.748249
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- Publication type:
- Article
Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination.
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- Journal of Infection in Developing Countries, 2015, v. 9, n. 3, p. 289, doi. 10.3855/jidc.5572
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- Article
Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.
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- Annals of Hematology, 2023, v. 102, n. 11, p. 3177, doi. 10.1007/s00277-023-05363-7
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- Publication type:
- Article
Variations in native T1 values in patients with Duchenne muscular dystrophy with and without late gadolinium enhancement.
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- International Journal of Cardiovascular Imaging, 2021, v. 37, n. 2, p. 635, doi. 10.1007/s10554-020-02031-z
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- Publication type:
- Article
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
- Published in:
- 2023
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- Publication type:
- Case Study
Utilization of Glucose-6-Phosphate Dehydrogenase Test and the Prevalence of Enzyme Deficiency in Korea.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3179, doi. 10.3390/jcm12093179
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- Publication type:
- Article
Mechanisms of Chimeric Cell Therapy in Duchenne Muscular Dystrophy.
- Published in:
- Biomedicines, 2024, v. 12, n. 9, p. 1996, doi. 10.3390/biomedicines12091996
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- Publication type:
- Article
Identification of a novel microdeletion causative of Nance‐Horan syndrome.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1879
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- Publication type:
- Article
Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings.
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- Journal of Nepal Paediatric Society, 2018, v. 38, n. 2, p. 122, doi. 10.3126/jnps.v38i2.18623
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- Publication type:
- Article
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 296, doi. 10.1038/jhg.2011.7
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- Publication type:
- Article
Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.771328
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- Publication type:
- Article
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
- Published in:
- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294891
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- Publication type:
- Article
Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
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- Journal of the European Academy of Dermatology & Venereology, 2020, v. 34, n. 7, p. 1415, doi. 10.1111/jdv.16403
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- Publication type:
- Article
Clinical-evolutionary considerations in Duchenne Dystrophy.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2023, v. 72, n. 1, p. 25, doi. 10.37897/RJP.2023.1.1
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- Publication type:
- Article
Whole Body, Whole Life, Whole Family: Patients' Perspectives on X-Linked Hypophosphatemia.
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- Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac086
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- Publication type:
- Article
Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1395287
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- Publication type:
- Article
Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 4, p. 1136, doi. 10.1093/ckj/sfaa065
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- Publication type:
- Article
Methemoglobinemia in an Elderly Patient with Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.
- Published in:
- Oman Medical Journal, 2014, v. 29, n. 2, p. 135, doi. 10.5001/omj.2014.33
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- Publication type:
- Article
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease.
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- Annals of Neurology, 2022, v. 91, n. 1, p. 158, doi. 10.1002/ana.26274
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- Publication type:
- Article
Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04529-0
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- Publication type:
- Article
Longitudinal assessment of physical function in adults with X-linked hypophosphatemia following initiation of burosumab therapy.
- Published in:
- Osteoporosis International, 2024, v. 35, n. 11, p. 2055, doi. 10.1007/s00198-024-07095-4
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- Publication type:
- Article
Clinical development of novel therapies for Duchenne muscular dystrophy—Current and future.
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- Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 111, doi. 10.1111/ncn3.12691
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- Publication type:
- Article
Aarskog-Scott syndrome: An unusual cause of scoliosis.
- Published in:
- 2017
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- Publication type:
- Case Study
Cutaneous clues for diagnosing X-chromosomal disorders.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162
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- Publication type:
- Article
Electrochemical impedance biosensor based on Y chromosome–specific sequences for fetal sex determination.
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- Microchimica Acta, 2023, v. 190, n. 12, p. 1, doi. 10.1007/s00604-023-06061-x
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- Publication type:
- Article
The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users.
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- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 8, p. 1903, doi. 10.1007/s10815-020-01840-4
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- Publication type:
- Article
Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.
- Published in:
- Balkan Medical Journal, 2018, v. 35, n. 1, p. 108, doi. 10.4274/balkanmedj.2017.0618
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- Publication type:
- Article
Prevalence and population genetic data of colour vision deficiency among students from selected tertiary institutions in Lagos State, Nigeria.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00287-9
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- Publication type:
- Article
Prevalence and population genetic data of colour vision deficiency among students from selected tertiary institutions in Lagos State, Nigeria.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, p. 1, doi. 10.1186/s43042-022-00287-9
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- Publication type:
- Article
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.
- Published in:
- 2019
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- Publication type:
- journal article
X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.
- Published in:
- Scandinavian Journal of Rheumatology, 2015, v. 44, n. 2, p. 168, doi. 10.3109/03009742.2014.995699
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- Publication type:
- Article
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8645, doi. 10.3390/ijms22168645
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- Publication type:
- Article
Peroxisomal ABC Transporters: An Update.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6093, doi. 10.3390/ijms22116093
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- Publication type:
- Article
miRNA Profiling for Early Detection and Treatment of Duchenne Muscular Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4638, doi. 10.3390/ijms20184638
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- Publication type:
- Article
Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR.
- Published in:
- Human Heredity, 2023, v. 88, n. 1, p. 1, doi. 10.1159/000527806
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- Publication type:
- Article
Nance-Horan Syndrome: A Rare Case Report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.
- Published in:
- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0290832
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- Publication type:
- Article
Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.
- Published in:
- Pediatric Anesthesia, 2023, v. 33, n. 8, p. 620, doi. 10.1111/pan.14691
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- Publication type:
- Article
Recurrence of vesicular stage lesions in an adult female patient with incontinentia pigmenti‐including molecular analysis.
- Published in:
- Australasian Journal of Dermatology, 2022, v. 63, n. 2, p. 258, doi. 10.1111/ajd.13837
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- Publication type:
- Article
Gender Specific Issues in Hereditary Ocular Disorders.
- Published in:
- Current Eye Research, 2015, v. 40, n. 2, p. 128, doi. 10.3109/02713683.2014.932813
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- Publication type:
- Article
49 Case Study: Cognitive Deficits Associated with Norrie Disease.
- Published in:
- 2023
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- Publication type:
- Abstract
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
- Published in:
- International Journal of Neuroscience, 2017, v. 127, n. 5, p. 448, doi. 10.1080/00207454.2016.1191483
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- Publication type:
- Article
Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.
- Published in:
- International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 158, doi. 10.3390/ijms26010158
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- Publication type:
- Article
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.653266
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- Publication type:
- Article
Management of a Giant Renal Artery Aneurysm in a Patient with Severe Hemophilia A.
- Published in:
- 2022
- By:
- Publication type:
- Case Study