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| 36778323 | A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment. | | 2023 |
| 37588420 | Creatine energy substrate increases bone density in the Pah classical PKU mouse in the context of phenylalanine restriction. | | 2023 |
| 37688338 | Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism. | | 2023 |
| 35782613 | Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria. | Molecular Genetics and Metabolism Reports | 2022 |
| 36101821 | Glutamine energy substrate anaplerosis increases bone density in the Pah classical PKU mouse in the absence of phenylalanine restriction. | JIMD Reports | 2022 |
| 35379539 | Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity. | Molecular Genetics and Metabolism | 2022 |
| 36338154 | ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction. | Molecular Genetics and Metabolism Reports | 2022 |
| 35367142 | Comparative metabolomics in the Pah classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress. | Molecular Genetics and Metabolism | 2022 |
| 36126746 | Hydroxocobalamin infusion in a patient monitored for plasma free hemoglobin levels. | Clin Biochem | 2022 |
| 34432558 | A New View of Bone Loss in Phenylketonuria. | Organogenesis | 2021 |
| 34229345 | An Infant with a Constellation of Biochemical Abnormalities. | Clinical Chemistry | 2021 |
| 33846068 | Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress. | Molecular Genetics and Metabolism | 2021 |
| 33450224 | Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma. | Journal of Biological Chemistry | 2021 |
| 33602601 | Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pah classical PKU mouse. | Molecular Genetics and Metabolism | 2021 |
| 34607258 | Growth and mineralization of osteoblasts from mesenchymal stem cells on microporous membranes: Epithelial-like growth with transmembrane resistance and pH gradient. | Biochemical and Biophysical Research Communications | 2021 |
| 33055427 | A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing. | JCI insight | 2020 |
| 31942004 | Correction: The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro. | Laboratory Investigation | 2020 |
| 32151545 | Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. | Molecular Genetics and Metabolism | 2020 |
| 33584796 | Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders. | Frontiers in Genetics | 2020 |
| 33192543 | Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. | Front Physiol | 2020 |
| 33110171 | Impaired mitochondrial medium-chain fatty acid oxidation drives periportal macrovesicular steatosis in sirtuin-5 knockout mice. | Scientific Reports | 2020 |
| 31358473 | Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment. | Molecular Genetics and Metabolism | 2019 |
| 31623983 | Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. | Molecular Genetics and Metabolism | 2019 |
| 31467425 | The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro. | Laboratory Investigation | 2019 |
| 30201326 | A bone mineralization defect in the Pah model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation. | Molecular Genetics and Metabolism | 2018 |
| 30311390 | Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. | Hum Mutat | 2018 |
| 28027971 | Host conditioning and rejection monitoring in hepatocyte transplantation in humans. | J Hepatol | 2017 |
| 29285339 | Medium chain acyl-CoA dehydrogenase deficiency in a premature infant. | Pediatric Reports | 2017 |
| 27523499 | Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior. | Am J Psychiatry | 2017 |
| 26822703 | DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. | Molecular Genetics and Metabolism | 2016 |
| 27195699 | The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. | PLoS Genet | 2016 |
| 27344355 | Mitochondrial respiratory chain disorders in the Old Order Amish population. | Mol Genet Metab | 2016 |
| 26883219 | Modeling correlates of low bone mineral density in patients with phenylalanine hydroxylase deficiency. | Journal of Inherited Metabolic Disease | 2016 |
| 25990862 | Altered DNA methylation in PAH deficient phenylketonuria. | Molecular Genetics and Metabolism | 2015 |
| 25502182 | Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency. | Clinical Chemistry | 2015 |
| 24667081 | Phenylketonuria Scientific Review Conference: state of the science and future research needs. | Mol Genet Metab | 2014 |
| 24307279 | Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. | Muscle Nerve | 2014 |
| 25218179 | Methylome repatterning in a mouse model of Maternal PKU Syndrome. | Molecular Genetics and Metabolism | 2014 |
| 22364140 | Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C. | Genetic Testing and Molecular Biomarkers | 2012 |
| 22698810 | Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. | Molecular Genetics and Metabolism | 2012 |
| 22841515 | Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. | Molecular Genetics and Metabolism | 2012 |
| 22490618 | Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. | Clin Chem | 2012 |
| 22039434 | FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection. | PLoS One | 2011 |
| 21147011 | Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. | Molecular Genetics and Metabolism | 2011 |
| 20457534 | The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer. | Molecular Genetics and Metabolism | 2010 |
| 20480395 | High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. | Journal of Inherited Metabolic Disease | 2010 |
| 18937047 | Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. | Journal of Inherited Metabolic Disease | 2009 |
| 19444284 | A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. | Journal of Human Genetics | 2009 |
| 19306394 | Planning the human variome project: the Spain report. | Hum Mutat | 2009 |
| 19370763 | Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling. | Hum Mutat | 2009 |