Found: 34
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Hyperammonaemia as a cause of psychosis in an adolescent.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Suspected sexual abuse: an unusual presentation form of congenital myotonic dystrophy.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
- By:
- Publication type:
- Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
- By:
- Publication type:
- Article
Management of adult patients with phenylketonuria: survey results from 24 countries.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 1, p. 119, doi. 10.1007/s00431-014-2458-4
- By:
- Publication type:
- Article
Ataxia with isolated vitamin E deficiency: case report and review of the literature.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Lymphonodular Hyperplasia as a Sign of Food Allergy in Children.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2000, v. 30, n. 3, p. 351
- By:
- Publication type:
- Article
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2932, doi. 10.3390/jcm10132932
- By:
- Publication type:
- Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
- By:
- Publication type:
- Article
Dietary practices in methylmalonic acidaemia: a European survey.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 1, p. 147, doi. 10.1515/jpem-2019-0277
- By:
- Publication type:
- Article
A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 6, p. 635, doi. 10.1515/jpem-2018-0492
- By:
- Publication type:
- Article
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
- Published in:
- Amino Acids, 2022, v. 54, n. 5, p. 777, doi. 10.1007/s00726-022-03128-6
- By:
- Publication type:
- Article
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 146, doi. 10.1002/jmd2.12265
- By:
- Publication type:
- Article
Long‐term follow‐up with filter paper samples in patients with propionic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 44, doi. 10.1002/jmd2.12166
- By:
- Publication type:
- Article
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Weight Management in Phenylketonuria: What Should Be Monitored?
- Published in:
- Annals of Nutrition & Metabolism, 2016, v. 68, n. 1, p. 60, doi. 10.1159/000442304
- By:
- Publication type:
- Article
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol.
- Published in:
- Antioxidants, 2022, v. 11, n. 8, p. N.PAG, doi. 10.3390/antiox11081588
- By:
- Publication type:
- Article
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- Case Reports in Pediatrics, 2020, p. 1, doi. 10.1155/2020/1370293
- By:
- Publication type:
- Article
Déficit de glicerol kinasa en el adulto: hipertrigliceridemia resistente a tratamiento dietético y farmacológico.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Women with Gaucher Disease.
- Published in:
- Biomedicines, 2024, v. 12, n. 3, p. 579, doi. 10.3390/biomedicines12030579
- By:
- Publication type:
- Article
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.
- Published in:
- Biomedicines, 2023, v. 11, n. 10, p. 2861, doi. 10.3390/biomedicines11102861
- By:
- Publication type:
- Article
Correction: Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1329, doi. 10.1002/humu.24026
- By:
- Publication type:
- Article
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.
- Published in:
- Genes, 2020, v. 11, n. 8, p. 855, doi. 10.3390/genes11080855
- By:
- Publication type:
- Article
The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8856, doi. 10.3390/ijms25168856
- By:
- Publication type:
- Article
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.
- Published in:
- Nutrients, 2024, v. 16, n. 17, p. 2909, doi. 10.3390/nu16172909
- By:
- Publication type:
- Article
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
- Published in:
- Nutrients, 2024, v. 16, n. 13, p. 1, doi. 10.3390/nu16132064
- By:
- Publication type:
- Article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients.
- Published in:
- Nutrients, 2022, v. 14, n. 13, p. 2755, doi. 10.3390/nu14132755
- By:
- Publication type:
- Article
Stress Hyperglycemia and Osteocalcin in COVID-19 Critically Ill Patients on Artificial Nutrition.
- Published in:
- Nutrients, 2021, v. 13, n. 9, p. 3010, doi. 10.3390/nu13093010
- By:
- Publication type:
- Article
Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis.
- Published in:
- Nutrients, 2019, v. 11, n. 9, p. 2070, doi. 10.3390/nu11092070
- By:
- Publication type:
- Article