Works matching DE "AMINO acid metabolism disorders"
Results: 591
"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03576-9
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- Article
Hyperhomocysteinemia and Methylenetetrahydrofolate Reductase Polymorphism in Cervical Artery Dissection: A Meta-Analysis.
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- Cerebrovascular Diseases, 2014, v. 37, n. 5, p. 313, doi. 10.1159/000360753
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- Publication type:
- Article
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children.
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- Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010X221093274
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- Publication type:
- Article
Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children.
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- Clinical Pathology, 2022, v. 15, p. 1, doi. 10.1177/2632010x221093274
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- Publication type:
- Article
Every Dark Urine is not Hematuria - A Novel Mutation Associated with Alkaptonuria.
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- Asian Journal of Pediatric Nephrology, 2023, v. 6, n. 1, p. 27, doi. 10.4103/ajpn.ajpn_3_23
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- Publication type:
- Article
A Case Report of Isovaleric Acidemia without Acidosis.
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- Case Reports in Clinical Practice, 2024, v. 9, n. 1, p. 3
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- Article
Comparing Efficiency of Green Methods for Surimi Skin and Bone Gelatin Extraction.
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- Current Research in Nutrition & Food Science, 2023, v. 11, n. 2, p. 772, doi. 10.12944/CRNFSJ.11.2.27
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- Article
Nontargeted and targeted metabolomics approaches reveal the key amino acid alterations involved in multiple myeloma.
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- PeerJ, 2022, p. 1, doi. 10.7717/peerj.12918
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- Article
Spontaneous Perforation of the Small Intestine, a Novel Manifestation of Classical Homocystinuria in an Adult with New Cystathionine β-synthetase Gene Mutations.
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- Collegium Antropologicum, 2011, v. 35, n. 1, p. 181
- Publication type:
- Article
Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice.
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- International Journal of Genomics, 2018, p. 1, doi. 10.1155/2018/7570850
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- Article
Assessment of Homocysteine, Vitamin B<sub>12</sub>, and Zinc Levels among Patients with Acute Ischemic Stroke in Northwestern Nigeria.
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- Nigerian Journal of Basic & Clinical Sciences, 2017, v. 14, n. 2, p. 105, doi. 10.4103/njbcs.njbcs_49_16
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- Article
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/1515641
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- Publication type:
- Article
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/1515641
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- Publication type:
- Article
Exploring the "gene–metabolite" network of ischemic stroke with blood stasis and toxin syndrome by integrated transcriptomics and metabolomics strategy.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61633-y
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- Publication type:
- Article
Genetic Diagnosis in a Cohort of Adult Patients with Inherited Metabolic Diseases: A Single-Center Experience.
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- Biomolecules (2218-273X), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/biom12070920
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- Publication type:
- Article
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
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- Frontiers in Genetics, 2024, p. 01, doi. 10.3389/fgene.2024.1395988
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- Publication type:
- Article
The use of a low phenylalanine diet in response to the challenging behaviour of a man with untreated phenylketonuria and profound learning disabilities.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 6, p. 520, doi. 10.1111/j.1365-2788.1995.tb00572.x
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- Article
Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 365, doi. 10.1111/j.1365-2788.1995.tb00540.x
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- Publication type:
- Article
Regulation of amino acid metabolism and α‐cell proliferation by glucagon.
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- Journal of Diabetes Investigation, 2018, v. 9, n. 3, p. 464, doi. 10.1111/jdi.12797
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- Publication type:
- Article
Effect of Curcumin on Aminoacid Absorption: An Experimental Study on Albino Rats.
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- Indian Journal of Public Health Research & Development, 2016, v. 7, n. 4, p. 126, doi. 10.5958/0976-5506.2016.00203.5
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- Publication type:
- Article
Plasma Prolidase Activity and Oxidative Stress in Patients with Parkinson’s Disease.
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- Parkinson's Disease (20420080), 2015, v. 2015, p. 1, doi. 10.1155/2015/598028
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- Publication type:
- Article
Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction.
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- Diabetology & Metabolic Syndrome, 2017, v. 9, p. 1, doi. 10.1186/s13098-017-0218-0
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- Publication type:
- Article
The Resource Mothers Program for Maternal Phenylketonuria.
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- American Journal of Public Health, 1999, v. 89, n. 5, p. 762, doi. 10.2105/AJPH.89.5.762
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- Article
Psychosocial Factors in Maternal Phenylketonuria: Women's Adherence to Medical Recommendations.
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- American Journal of Public Health, 1995, v. 85, n. 12, p. 1636, doi. 10.2105/AJPH.85.12.1636
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- Publication type:
- Article
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
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- Pigment Cell & Melanoma Research, 2018, v. 31, n. 4, p. 529, doi. 10.1111/pcmr.12695
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- Publication type:
- Article
Frequency of mutational changes in the embB among the ethambutol-resistant strains of Mycobacterium tuberculosis in Iran.
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- Journal of Infection in Developing Countries, 2016, v. 10, n. 4, p. 363, doi. 10.3855/jidc.7215
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- Article
Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.
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- 1998
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- Case Study
Ferroptosis triggers airway inflammation in asthma.
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- Therapeutic Advances in Respiratory Disease, 2023, p. 1, doi. 10.1177/17534666231208628
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- Publication type:
- Article
Ferroptosis triggers airway inflammation in asthma.
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- Therapeutic Advances in Respiratory Disease, 2023, v. 17, p. 1, doi. 10.1177/17534666231208628
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- Publication type:
- Article
FENILKETONURIJA I DRUGE HIPERFENILALANINEMIJE.
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- Pedijatrija Danas: Pediatrics Today, 2005, v. 1, n. 1, p. 11
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- Publication type:
- Article
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria.
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- Developmental Medicine & Child Neurology, 2006, v. 48, n. 3, p. 207, doi. 10.1017/S0012162206000442
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- Publication type:
- Article
In vivoimaging detects a transient increase in brain arachidonic acid metabolism: a potential marker of neuroinflammation.
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- Journal of Neurochemistry, 2004, v. 91, n. 4, p. 936, doi. 10.1111/j.1471-4159.2004.02786.x
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- Publication type:
- Article
Rare indication for cardioverter-defibrillator implantation: propionic acidemia complicated by dilated cardiomyopathy and prolonged QT interval.
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- Polish Heart Journal / Kardiologia Polska, 2019, v. 77, n. 5, p. 584, doi. 10.33963/KP.14852
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- Publication type:
- Article
Genetic Counselling for Global Developmental Delay/Intellectual Disability (GDD/ID) — Changing Landscapes and Persisting Challenges.
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- Indian Pediatrics, 2023, v. 60, n. 2, p. 142, doi. 10.1007/s13312-023-2813-1
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- Article
Factors influencing verbal intelligence and spoken language in children with phenylketonuria.
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- Indian Pediatrics, 2015, v. 52, n. 5, p. 397, doi. 10.1007/s13312-015-0644-8
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- Article
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: A prospective cohort study.
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- Indian Pediatrics, 2015, v. 52, n. 2, p. 119, doi. 10.1007/s13312-015-0584-3
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- Publication type:
- Article
Use of an Enzymatic Process for Extracting and Hydrolyzing Rice Proteins Aiming at Phenylalanine Removal.
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- International Journal of Food Engineering, 2009, v. 5, n. 1, p. 1, doi. 10.2202/1556-3758.1462
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- Article
Serum homocysteine and physical exercise in patients with Parkinson's disease.
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- Psychogeriatrics, 2011, v. 11, n. 2, p. 105, doi. 10.1111/j.1479-8301.2011.00356.x
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- Publication type:
- Article
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 11, p. 10409, doi. 10.1007/s11033-022-07579-8
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- Publication type:
- Article
Diffusion MRI findings in phenylketonuria.
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- 2003
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- Publication type:
- journal article
OCHRONOTIC ARTHROPATHY- A CASE REPORT.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 184
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- Publication type:
- Article
GENETIC LANDSCAPE OF PHENYLKETONURIA IN SERBIA.
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- Genetics & Applications, 2024, p. 41
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- Publication type:
- Article
Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.
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- Human Genetics, 2002, v. 110, n. 3, p. 235, doi. 10.1007/s00439-002-0677-7
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- Publication type:
- Article
Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
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- Human Genetics, 2000, v. 107, n. 4, p. 295, doi. 10.1007/s004390000392
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- Publication type:
- Article
Acute Encephalopathy Caused by Inherited Metabolic Diseases.
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- Journal of Clinical Medicine, 2023, v. 12, n. 11, p. 3797, doi. 10.3390/jcm12113797
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- Publication type:
- Article
The Utility of Genomic Testing for Hyperphenylalaninemia.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041061
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- Publication type:
- Article
Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia.
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- Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3674, doi. 10.3390/jcm10163674
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- Publication type:
- Article
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
- Published in:
- Biomedicines, 2023, v. 11, n. 7, p. 1899, doi. 10.3390/biomedicines11071899
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- Publication type:
- Article
Long-term methionine-diet induced mild hyperhomocysteinemia associated cardiac metabolic dysfunction in multiparous rats.
- Published in:
- Physiological Reports, 2015, v. 3, n. 5, p. n/a, doi. 10.14814/phy2.12292
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- Publication type:
- Article
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7‐year study in eastern coastal areas of China.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2152
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- Publication type:
- Article