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WHEN TO MEASURE PLASMA HOMOCYSTEINE AND HOW TO PLACE IT IN CONTEXT: THE HOMOCYSTINURIAS.
- Published in:
- Journal of Mother & Child, 2020, v. 24, n. 2, p. 39, doi. 10.34763/jmotherandchild.20202402si.2016.000007
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- Article
Revised recommendations for the management of Gaucher disease in children.
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- European Journal of Pediatrics, 2013, v. 172, n. 4, p. 447, doi. 10.1007/s00431-012-1771-z
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- Article
Scleroderma-like syndrome in a child: eosinophilic fasciitis or scleredema adultorum?
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- 2000
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- Publication type:
- journal article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 161, doi. 10.1186/s13023-014-0161-1
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- Publication type:
- Article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0159-8
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
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- Publication type:
- Article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
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- Publication type:
- journal article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
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- Publication type:
- Article
Hyperhomocysteinemia in Children Treated with Antiepileptic Drugs Is Normalized by Folic Acid Supplementation.
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- Epilepsia (Series 4), 2005, v. 46, n. 10, p. 1677, doi. 10.1111/j.1528-1167.2005.00264.x
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- Publication type:
- Article
Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 89, doi. 10.1002/jmd2.12062
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- Article
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus.
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- 2022
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- Publication type:
- journal article
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria.
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- 2021
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- Publication type:
- journal article
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 167, doi. 10.3233/JND-230164
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- Publication type:
- Article
Explaining juvenile idiopathic arthritis to paediatric patients using illustrations and easy-to-read texts: improvement of disease knowledge and adherence to treatment.
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- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00644-9
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- Publication type:
- Article
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
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- 2019
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- Publication type:
- journal article
The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648
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- Publication type:
- Article
Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 796, doi. 10.1002/jimd.12622
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- Publication type:
- Article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
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- Publication type:
- Article
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 144, doi. 10.1002/jimd.12442
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- Publication type:
- Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
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- Publication type:
- Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
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- Article
Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
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- Publication type:
- Article
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 215, doi. 10.1002/jimd.12301
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- Publication type:
- Article
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100
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- Publication type:
- Article
The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 686, doi. 10.1002/jimd.12012
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- Publication type:
- Article
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041
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- Article
Newborn screening for homocystinurias: Recent recommendations versus current practice.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 128, doi. 10.1002/jimd.12034
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- Publication type:
- Article
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 689, doi. 10.1007/s10545-018-0157-4
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- Publication type:
- Article
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 49, doi. 10.1007/s10545-016-9979-0
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- Publication type:
- Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
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- Publication type:
- Article
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 331, doi. 10.1007/s10545-016-9928-y
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1007, doi. 10.1007/s10545-015-9830-z
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- Publication type:
- Article
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 905, doi. 10.1007/s10545-015-9836-6
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- Publication type:
- Article
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
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- Publication type:
- Article
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 21, doi. 10.1007/s10545-013-9624-0
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- Publication type:
- Article
Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders.
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- CardioVascular & Interventional Radiology, 2014, v. 37, n. 4, p. 1027, doi. 10.1007/s00270-013-0756-2
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- Publication type:
- Article
FBXL4 -Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00039
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- Publication type:
- Article
variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
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- Human Molecular Genetics, 2019, v. 28, n. 4, p. 639, doi. 10.1093/hmg/ddy374
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- Publication type:
- Article
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03368-7
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- Publication type:
- Article
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 40, doi. 10.3390/ijns10020040
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- Article
Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 626, doi. 10.3390/diagnostics10090626
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- Article
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
- Published in:
- Human Mutation, 2016, v. 37, n. 5, p. 427, doi. 10.1002/humu.22970
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- Publication type:
- Article
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.
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- Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062
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- Publication type:
- Article
Glucocorticoids enhance interleukin-4 production to neo-antigen (hyaluronidase) in children immunocompromised with cytostatic drugs.
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- Pediatric Allergy & Immunology, 2002, v. 13, n. 5, p. 375, doi. 10.1034/j.1399-3038.2002.02039.x
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- Publication type:
- Article
Biochemical, Nutritional, and Clinical Parameters of Vitamin B12 Deficiency in Infants: A Systematic Review and Analysis of 292 Cases Published between 1962 and 2022.
- Published in:
- Nutrients, 2023, v. 15, n. 23, p. 4960, doi. 10.3390/nu15234960
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- Publication type:
- Article