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Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2283
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- Publication type:
- Article
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2209, doi. 10.1002/ajmg.a.62752
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- Publication type:
- Article
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 557, doi. 10.1002/jimd.12477
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- Publication type:
- Article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
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- Publication type:
- Article
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.
- Published in:
- Journal of the Endocrine Society, 2021, v. 5, n. 2, p. 1, doi. 10.1210/jendso/bvaa196
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- Publication type:
- Article
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 70, doi. 10.1002/jmd2.12153
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- Publication type:
- Article
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
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- Publication type:
- Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
- Published in:
- 2019
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- Publication type:
- journal article
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 26, doi. 10.1002/jmd2.12054
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- Publication type:
- Article
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants.
- Published in:
- 2019
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- Publication type:
- Case Study
The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.
- Published in:
- Clinical Pediatrics, 2016, v. 55, n. 3, p. 286, doi. 10.1177/0009922815584219
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
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- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- 2015
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- Publication type:
- journal article
Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.
- Published in:
- Human Brain Mapping, 2014, v. 35, n. 2, p. 646, doi. 10.1002/hbm.22208
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- Publication type:
- Article
Novel DICER1 mutation as cause of multinodular goiter in children.
- Published in:
- Head & Neck, 2013, v. 35, n. 12, p. E369, doi. 10.1002/hed.23250
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- Publication type:
- Article
A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 154, doi. 10.1002/ajmg.a.33751
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- Publication type:
- Article
Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis. Outcome-related variables at two Detroit hospitals.
- Published in:
- 2004
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- Publication type:
- journal article