Works matching DE "AMINO acid metabolism disorders"
Results: 587
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
A role for overdominant selection in phenylketonuria? Evidence from molecular data (For the PKU Special Issue).
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- Human Mutation, 2003, v. 21, n. 4, p. 394, doi. 10.1002/humu.10205
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- Article
Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
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- 2017
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- Publication type:
- journal article
Comparative study of microcystin-LR-induced behavioral changes of two fish species, Danio rerio and Leucaspius delineatus.
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- Environmental Toxicology, 2004, v. 19, n. 6, p. 564, doi. 10.1002/tox.20063
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- Publication type:
- Article
Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks.
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- Turkish Journal of Medical Sciences, 2024, v. 54, n. 4, p. 710, doi. 10.55730/1300-0144.5840
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- Article
In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1.
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- Genetics, 2024, v. 228, n. 2, p. 1, doi. 10.1093/genetics/iyae139
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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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- 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
Analysis of a 1-year-old cystinuric patient with recurrent renal stones.
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- International Journal of Urology, 2006, v. 13, n. 10, p. 1347, doi. 10.1111/j.1442-2042.2006.01550.x
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- 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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- Article
Nonketotic Hyperglycinemia: Two Case Reports and Review.
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- Neurodiagnostic Journal, 2019, v. 59, n. 3, p. 142, doi. 10.1080/21646821.2019.1645549
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- Article
Oculo-auriculo-vertebral spectrum.
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- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105
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- Publication type:
- Article
Clinical significance of hypouricemia in children and adolescents.
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- Pediatric Nephrology, 2023, v. 38, n. 9, p. 3017, doi. 10.1007/s00467-023-05948-4
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- Publication type:
- Article
Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2887, doi. 10.1007/s00467-023-05906-0
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- Publication type:
- Article
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
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- Pediatric Nephrology, 2022, v. 37, n. 6, p. 1415, doi. 10.1007/s00467-021-05372-6
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- Publication type:
- Article
A surprising cause of proteinuria: Answers.
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- 2022
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- Publication type:
- Question & Answer
Urolithiasis in an infant with propionic acidemia: Answer.
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- Pediatric Nephrology, 2015, v. 30, n. 1, p. 77, doi. 10.1007/s00467-013-2664-8
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- Article
Urolithiasis in an infant with propionic acidemia: Questions.
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- Pediatric Nephrology, 2015, v. 30, n. 1, p. 75, doi. 10.1007/s00467-013-2653-y
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- Publication type:
- Article
Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney.
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- Pediatric Nephrology, 2014, v. 29, n. 11, p. 2139, doi. 10.1007/s00467-014-2847-y
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- Article
An unusual cause of severe rickets: Answers.
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- Pediatric Nephrology, 2014, v. 29, n. 3, p. 389, doi. 10.1007/s00467-013-2522-8
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- Publication type:
- Article
Methylmalonic acidemia and kidney transplantation.
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- 2013
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- Publication type:
- Letter
High-dose continuous renal replacement therapy for neonatal hyperammonemia.
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- 2013
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- Publication type:
- Report
Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.
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- Pediatric Nephrology, 2013, v. 28, n. 2, p. 227, doi. 10.1007/s00467-012-2245-2
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- Publication type:
- Article
Hyperammonemia in review: pathophysiology, diagnosis, and treatment.
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- Pediatric Nephrology, 2012, v. 27, n. 2, p. 207, doi. 10.1007/s00467-011-1838-5
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- Publication type:
- Article
CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency.
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- 2010
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- Publication type:
- Letter
Cystinuria in children and young adults: success of monitoring free-cystine urine levels.
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- Pediatric Nephrology, 2007, v. 22, n. 11, p. 1869, doi. 10.1007/s00467-007-0575-2
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- Publication type:
- Article
Cystinuria presenting with acute renal failure and hyperkalemia.
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- Pediatric Nephrology, 2006, v. 21, n. 6, p. 759, doi. 10.1007/s00467-006-0075-9
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- Publication type:
- Article
Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up.
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- Pediatric Nephrology, 2005, v. 20, n. 1, p. 19, doi. 10.1007/s00467-004-1663-1
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- Publication type:
- Article
Annual Meeting of the Société de Néphrologie Pédiatrique, 5 - 7 February 2004, Les Diablerets, Suisse.
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- 2004
- Publication type:
- Abstract
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
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- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
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- Publication type:
- Article
Evaluation of Metabolic and Nutritional Status of Children with Autism Spectrum Disorders: Results of a Single Center in Turkey.
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- Medical Journal of Bakirkoy, 2020, v. 16, n. 3, p. 231, doi. 10.5222/BMJ.2020.44153
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- Publication type:
- Article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
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- Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020
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- Publication type:
- Article
Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.
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- 1994
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- Publication type:
- journal article
Hyperammonemia of unknown cause in a young postpartum woman: a case report.
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- 2022
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- Publication type:
- journal article
Effect of vitamin B12 and folic acid supplementation on biomarkers of endothelial function and inflammation among elderly individuals with hyperhomocysteinemia.
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- Vascular Medicine, 2016, v. 21, n. 2, p. 91, doi. 10.1177/1358863X15622281
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- Publication type:
- Article
Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.
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- Annals of Nutrition & Metabolism, 2022, v. 78, n. 1, p. 48, doi. 10.1159/000519813
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- Publication type:
- Article
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
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- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 268, doi. 10.1159/000508838
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- Publication type:
- Article
Fifteen years experience: Egyptian metabolic lab.
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- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 3, p. 379, doi. 10.1016/j.ejmhg.2014.07.002
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- Publication type:
- Article
Fifteen years experience: Egyptian metabolic lab.
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- Egyptian Journal of Medical Human Genetics, 2014, v. 15, n. 4, p. 379, doi. 10.1016/j.ejmhg.2014.07.002
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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
Current Literature.
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- 2015
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- Publication type:
- Abstract
How individuals with phenylketonuria experience their illness: an age-related qualitative study.
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- Child: Care, Health & Development, 2010, v. 36, n. 4, p. 539, doi. 10.1111/j.1365-2214.2009.01000.x
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- Publication type:
- Article
Hyperhomocysteinemia and vascular access thrombosis in hemodialysis patients: a retrospective study.
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- Vascular Health & Risk Management, 2013, v. 9, p. 361, doi. 10.2147/VHRM.S47255
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- Publication type:
- Article
"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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- Publication type:
- Article
Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03580-z
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- Publication type:
- Article
Tyrosinemia Type 1: An Overview of Nursing Care.
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- Pediatric Nursing, 2014, v. 40, n. 2, p. 61
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- Publication type:
- Article
Maple Syrup Disease: A Standard of Nursing Care.
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- Pediatric Nursing, 2001, v. 27, n. 3, p. 255
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- Publication type:
- Article
Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder.
- Published in:
- 2015
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- Publication type:
- Journal 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
Plasma long-chain polyunsaturated fatty acids and neurodevelopment through the first 12 months of life in phenylketonuria.
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- Developmental Medicine & Child Neurology, 2003, v. 45, n. 4, p. 257, doi. 10.1017/S0012162203000495
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- Publication type:
- Article