Found: 19
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Prenatal diagnosis in adenylosuccinate lyase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Digital droplet PCR-based quantification of ccfHPV-DNA as liquid biopsy in HPV-driven cervical and vulvar cancer.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2023, v. 149, n. 14, p. 12597, doi. 10.1007/s00432-023-05077-3
- By:
- Publication type:
- Article
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
- By:
- Publication type:
- Article
Gene Structure and Promoter Analysis of the Rat Constitutive CYP2C23 Gene.
- Published in:
- DNA & Cell Biology, 1995, v. 14, n. 9, p. 777, doi. 10.1089/dna.1995.14.777
- By:
- Publication type:
- Article
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
- Published in:
- Journal of Magnetic Resonance Imaging, 2013, v. 37, n. 4, p. 974, doi. 10.1002/jmri.23852
- By:
- Publication type:
- Article
Urine metabolomics links dysregulation of the tryptophan-kynurenine pathway to inflammation and severity of COVID-19.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14292-w
- By:
- Publication type:
- Article
Aminopeptidase B, a glucagon-processing enzyme: site directedmutagenesis of the Zn<sup>2+</sup>- binding motif and molecular modelling.
- Published in:
- BMC Biochemistry, 2007, v. 8, p. 21, doi. 10.1186/1471-2091-8-21
- By:
- Publication type:
- Article
Long-Term Consequences of COVID-19 in Predominantly Immunonaive Patients: A Canadian Prospective Population-Based Study.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 5939, doi. 10.3390/jcm12185939
- By:
- Publication type:
- Article
Contribution to the Detection of Poor Quality Sildenafil Drugs in Burkina Faso Using High-Performance Thin-Layer Chromatography.
- Published in:
- Journal of Analytical Methods in Chemistry, 2021, p. 1, doi. 10.1155/2021/4093859
- By:
- Publication type:
- Article
A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119540
- By:
- Publication type:
- Article
Neonatal Thyroid-Stimulating Hormone Concentrations in Belgium: A Useful Indicator for Detecting Mild Iodine Deficiency?
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047770
- By:
- Publication type:
- Article
Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.88510
- By:
- Publication type:
- Article
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99496-2
- By:
- Publication type:
- Article
AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1254, doi. 10.1002/jimd.12274
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- Publication type:
- Article
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.
- Published in:
- Human Mutation, 1999, v. 13, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D
- By:
- Publication type:
- Article
Expanding the spectrum of clinical severity of AICA‐ribosiduria: Report of two siblings with mild phenotype caused by a novel pathogenic variant in ATIC gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 575, doi. 10.1002/ajmg.a.63036
- By:
- Publication type:
- Article
Composition en sels minéraux et en métabolites secondaires de Ziziphus mauritiana Lam., une plante antihyperglycémiante.
- Published in:
- Journal de la Société Ouest-Africaine de Chimie, 2017, v. 44, p. 30
- By:
- Publication type:
- Article
Evolution and Phylogenetic Diversity of Yam Species (Dioscorea spp.): Implication for Conservation and Agricultural Practices.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0145364
- By:
- Publication type:
- Article
The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1253, doi. 10.3390/ijms24021253
- By:
- Publication type:
- Article