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Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine: Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 5, p. 373, doi. 10.3390/metabo12050373
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- Publication type:
- Article
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
- Published in:
- Metabolites (2218-1989), 2019, v. 9, n. 10, p. 220, doi. 10.3390/metabo9100220
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- Publication type:
- Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
- Published in:
- Nutrients, 2021, v. 13, n. 11, p. 3828, doi. 10.3390/nu13113828
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- Publication type:
- Article
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.
- Published in:
- 2020
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- Publication type:
- journal article
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
- Published in:
- 2020
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- Publication type:
- journal article
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
- Published in:
- 2020
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- Publication type:
- journal article
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
- Published in:
- 2020
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- Publication type:
- journal article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- Nutrition Journal, 2013, v. 12, p. 1, doi. 10.1186/1475-2891-12-60
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- Publication type:
- Article
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
- Published in:
- 2013
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- Publication type:
- journal article
Impaired ketone body utilisation as a cause of life-threatening ketoacidosis.
- Published in:
- 2022
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- Publication type:
- letter
Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03024-0
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- Publication type:
- Article
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 5, p. 1239, doi. 10.3390/cells10051239
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- Publication type:
- Article
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
- Published in:
- 2018
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- Publication type:
- journal article
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1408, doi. 10.3390/genes14071408
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- Publication type:
- Article
Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.
- Published in:
- 2021
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- Publication type:
- Case Study
Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1164, doi. 10.3390/genes12081164
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- Publication type:
- Article
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 879, doi. 10.3390/genes12060879
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- Publication type:
- Article
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
- Published in:
- 2019
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- Publication type:
- journal article
Unsuccessful intravenous D-mannose treatment in PMM2-CDG.
- Published in:
- 2019
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- Publication type:
- journal article
Haematological characteristics and spontaneous haematological recovery in Pearson syndrome.
- Published in:
- British Journal of Haematology, 2021, v. 193, n. 6, p. 1283, doi. 10.1111/bjh.17434
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- Publication type:
- Article
Elevated Plasma Vitamin B12 in Patients with Hepatic Glycogen Storage Diseases.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2326, doi. 10.3390/jcm9082326
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- Publication type:
- Article
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-34373-8
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- Publication type:
- Article
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
- Published in:
- 2022
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- Publication type:
- journal article
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
- Published in:
- 2022
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- Publication type:
- Journal Article
Impact of glycogen storage disease type I on adult daily life: a survey.
- Published in:
- 2021
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- Publication type:
- journal article
Psychosocial issues and coping strategies in families affected by long‐chain fatty acid oxidation disorders.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 1, p. 25, doi. 10.1002/jmd2.12402
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- Publication type:
- Article
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 252, doi. 10.1002/jmd2.12364
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- Publication type:
- Article
Three successful pregnancies in a patient with glycogen storage disease type 0.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 38, doi. 10.1002/jmd2.12178
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- Publication type:
- Article
A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 79, doi. 10.1002/jmd2.12118
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- Publication type:
- Article
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
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- Publication type:
- Article
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- 2021
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- Publication type:
- Correction Notice
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
- By:
- Publication type:
- Article
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 10, p. 1803, doi. 10.3390/diagnostics13101803
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- Publication type:
- Article
Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 749, doi. 10.3390/diagnostics11050749
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- Publication type:
- Article
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 3, p. 500, doi. 10.3390/diagnostics11030500
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- Publication type:
- Article
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 674, doi. 10.1002/jimd.12731
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- Publication type:
- Article
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
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- Publication type:
- Article
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
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- Publication type:
- Article
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1063, doi. 10.1002/jimd.12653
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- Publication type:
- Article
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 15, doi. 10.1002/jimd.12563
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- Publication type:
- Article
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1330, doi. 10.1002/jimd.12419
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- Publication type:
- Article
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1124, doi. 10.1002/jimd.12386
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- Publication type:
- Article
Defective lysosomal storage in Fabry disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1039, doi. 10.1002/jimd.12373
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- Publication type:
- Article
Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 916, doi. 10.1002/jimd.12368
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- Publication type:
- Article
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 893, doi. 10.1002/jimd.12372
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- Publication type:
- Article
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 857, doi. 10.1002/jimd.12364
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- Publication type:
- Article
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370
- By:
- Publication type:
- Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
- By:
- Publication type:
- Article
Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 850, doi. 10.1002/jimd.12098
- By:
- Publication type:
- Article
Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease.
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.579981
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- Publication type:
- Article