Works matching Enzyme deficiency
Results: 3495
Cochlear Implantation in Biotinidase Enzyme Deficiency.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2022, v. 74, n. 1, p. 316, doi. 10.1007/s12070-020-02105-3
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- Article
Side‐chain cleavage enzyme deficiency: Systematic review and case series.
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- Clinical Endocrinology, 2023, v. 98, n. 3, p. 351, doi. 10.1111/cen.14848
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- Article
The Prevalence of Single Nucleotide Polymorphisms of the AOC1 Gene Associated with Diamine Oxidase (DAO) Enzyme Deficiency in Healthy Newborns: A Prospective Population-Based Cohort Study.
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- Genes, 2025, v. 16, n. 2, p. 141, doi. 10.3390/genes16020141
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- Article
Antioxidant enzyme deficiencies and vascular disease.
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- Expert Review of Endocrinology & Metabolism, 2010, v. 5, n. 1, p. 15, doi. 10.1586/EEM.09.41
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- Article
Prevalence of Diamine Oxidase Enzyme (DAO) Deficiency in Subjects with Insomnia-Related Symptoms.
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- Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4583, doi. 10.3390/jcm13164583
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- Article
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
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- Scientifica, 2016, p. 1, doi. 10.1155/2016/9828672
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- Article
Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway.
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- Biomedicines, 2022, v. 10, n. 12, p. 3198, doi. 10.3390/biomedicines10123198
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- Article
Effects of excessive nitrogen fertilizer and soil moisture deficiency on antioxidant enzyme system and osmotic adjustment in tomato seedlings.
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- International Journal of Agricultural & Biological Engineering, 2022, v. 15, n. 2, p. 127, doi. 10.25165/j.ijabe.20221502.5555
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- Article
Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.
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- Molecular Biology Reports, 2022, v. 49, n. 3, p. 2141, doi. 10.1007/s11033-021-07031-3
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- Article
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8873219
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- Article
Management of Athletes With G6PD Deficiency: Does Missing an Enzyme Mean Missing More Games?
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- 2020
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- Publication type:
- journal article
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
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- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
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- Article
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
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- Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031
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- Article
A case of methylenetetrahydrofolate reductase deficiency enzyme deficiency carrying a novel mutation.
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- Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 276, doi. 10.1111/ncn3.12295
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- Article
Glycobiology: Enzyme deficiencies deciphered.
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- Nature Chemical Biology, 2012, v. 8, n. 2, p. 137, doi. 10.1038/nchembio.778
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- Article
Polymorphisms in rs915941 and rs915942: Are they associated with increased risk of G6PD enzyme deficiency in the Sri Lankan population?
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- Journal of the National Science Foundation of Sri Lanka, 2021, v. 49, n. 2, p. 157, doi. 10.4038/jnsfsr.v49i2.9959
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- Article
Recapture Lysosomal Enzyme Deficiency via Targeted Gene Disruption in the Human Near-Haploid Cell Line HAP1.
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- Genes, 2021, v. 12, n. 7, p. 1076, doi. 10.3390/genes12071076
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- Article
Assessment of Mothers' knowledge upon their Children with Enzyme Deficiency (G6PD) in Pediatric Teaching Hospital at AL-Hilla City.
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- Indian Journal of Public Health Research & Development, 2018, v. 9, n. 10, p. 898, doi. 10.5958/0976-5506.2018.01254.8
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- Article
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.
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- Journal of Neurochemistry, 2013, v. 127, n. 1, p. 101, doi. 10.1111/jnc.12277
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- Article
Gluconeogenic enzyme PCK1 deficiency promotes CHK2 O-GlcNAcylation and hepatocellular carcinoma growth upon glucose deprivation.
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- 2021
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- Publication type:
- journal article
Effect of D-amino acid metabolic enzyme deficiency on cancer development—diffuse large B-cell lymphoma onset and gene expression analyses in DASPO-knockout mice.
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- Amino Acids, 2024, v. 57, n. 1, p. 1, doi. 10.1007/s00726-024-03426-1
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- Article
Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency—The Specificity of Treatment and Care: A Case Report.
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- Medicina (1010660X), 2024, v. 60, n. 6, p. 1006, doi. 10.3390/medicina60061006
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- Article
Comparison of Three Screening Test Kits for G6PD Enzyme Deficiency: Implications for Its Use in the Radical Cure of Vivax Malaria in Remote and Resource-Poor Areas in the Philippines.
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- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0148172
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- Article
EFFECT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY ON SOME ENZYMES AND VITAMINS IN FAVISM PATIENTS IN BASRAH GOVERNORATE -IRAQ.
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- Journal of Basrah Researches (Sciences), 2021, v. 47, n. 1, p. 190
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- Article
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
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- Cells (2073-4409), 2024, v. 13, n. 10, p. 877, doi. 10.3390/cells13100877
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- Article
Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 4, p. 439, doi. 10.1159/000529126
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- Article
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
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- 2013
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- Publication type:
- journal article
مقایسه روشهاي فلورسانتنقطهاي، دکولوراسیون و اندازهگیري کمی آنزیمی در تشخیصنقصدر عملکرد آنزیمی گلوکز- 6- فسفات دهیدروژناز نوزادان
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- Journal of Gorgan University of Medical Sciences, 2015, v. 17, n. 3, p. 108
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- Article
Disaccharidase Enzyme Deficiency in Adult Patients With Gas and Bloating.
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- Clinical & Translational Gastroenterology, 2025, v. 16, n. 3, p. e00809, doi. 10.14309/ctg.0000000000000809
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- Article
Why does the Iranian National Program of Screening Newborns for G6PD Enzyme Deficiency Miss a Large Number of Affected Infants?
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- Pediatric Hematology & Oncology, 2014, v. 31, n. 1, p. 95, doi. 10.3109/08880018.2013.871613
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- Article
Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders.
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- Developmental Neuroscience, 1983, v. 6, n. 1, p. 58, doi. 10.1159/000112332
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- Article
Rare forms of congenital adrenal hyperplasia.
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- Clinical Endocrinology, 2024, v. 101, n. 4, p. 371, doi. 10.1111/cen.15009
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- Article
Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.
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- Ultrastructural Pathology, 2015, v. 39, n. 4, p. 293, doi. 10.3109/01913123.2015.1014612
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- Article
In silico study of peculiarities of metabolism of erythrocytes with glucosephosphate isomerase deficiency.
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- Regulatory Mechanisms in Biosystems, 2019, v. 10, n. 3, p. 306, doi. 10.15421/021947
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- Article
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
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- 2019
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- Publication type:
- journal article
Deficiencia de glucosa-6-fosfato-deshidrogenasa (G6PD) en individuos de la ciudad de Cartagena.
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- Ciencia e Innovación en Salud, 2021, p. 323, doi. 10.17081/innosa.140
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- Article
Secondary biochemical and morphological consequences in lysosomal storage diseases.
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- Biochemistry (00062979), 2014, v. 79, n. 7, p. 619, doi. 10.1134/S0006297914070049
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- Article
Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.
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- Laboratory Medicine, 2025, v. 56, n. 1, p. 93, doi. 10.1093/labmed/lmae058
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- Article
Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00101
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- Article
17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 957, doi. 10.1515/jpem-2014-0354
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- Publication type:
- Article
Medical Muddle.
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- Journal of Lesbian Studies, 2014, v. 18, n. 1, p. 57, doi. 10.1080/10894160.2013.836436
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- Article
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia.
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- Turkish Journal of Medical Sciences, 2021, v. 51, n. 3, p. 1220, doi. 10.3906/sag-2001-72
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- Article
Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report.
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- 2023
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- Publication type:
- Case Study
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).
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- Biomolecules (2218-273X), 2024, v. 14, n. 9, p. 1096, doi. 10.3390/biom14091096
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- Article
An Overview of Molecular Mechanisms in Fabry Disease.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101460
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- Article
Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease.
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- Journal of Functional Biomaterials, 2024, v. 15, n. 6, p. 153, doi. 10.3390/jfb15060153
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- Article
Prevalence of Disaccharidase Deficiency in Adults With Unexplained Gastrointestinal Symptoms.
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- Journal of Neurogastroenterology & Motility, 2020, v. 26, n. 3, p. 384, doi. 10.5056/jnm19167
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- Publication type:
- Article
Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 3, p. 249, doi. 10.1159/000526401
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- Publication type:
- Article
Study of RBCs Pyruvate Kinase Deficiency in Neonatal Pathological Indirect Hyperbilirubinemia.
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- Egyptian Journal of Hospital Medicine, 2022, v. 89, p. 5106, doi. 10.21608/ejhm.2022.261797
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- Article
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3625, doi. 10.3390/ijms22073625
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- Article