Jerry Vockley
- The Genetic Landscape and Epidemiology of Phenylketonuria
2020/07/14 by Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana +57 · 31 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Allele #Amino Acid Enzymes and Metabolism #Amino acid #Biology #Compound heterozygosity #Folate and B Vitamins Research #Gene #Genetics #Genotype #Hyperphenylalaninemia #Internal medicine #Medicine #Metabolism and Genetic Disorders #Phenotype #Phenylalanine #Phenylalanine hydroxylase #Phenylketonurias
- Total Serum Bilirubin within 3 Months of Hepatoportoenterostomy Predicts Short-Term Outcomes in Biliary Atresia
2015/12/24 by Benjamin L. Shneider, John C. Magee, Saul J. Karpen +140 · 27 citations
Medicine · #Pediatric Hepatobiliary Diseases and Treatments #Gallbladder and Bile Duct Disorders #Neonatal Health and Biochemistry
- Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
2019/01/25 by Sumit Parikh, Amel Karaa, Amy Goldstein +27 · 21 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #Infectious Encephalopathies and Encephalitis
- Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
2022/11/04 by Lisa Pan, Lisa A. Pan, Anna Maria Segreti +11 · 10 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · Medicine · #Metabolomics and Mass Spectrometry Studies #Tryptophan and brain disorders #Treatment of Major Depression
- Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives
2018/10/03 by Amaka C Offiah, Amaka C. Offiah, Jerry Vockley +2 · 1 citation
Medicine · #Alkaline Phosphatase Research Studies #Bone health and osteoporosis research #Bone health and treatments
- Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia
2007/06/19 by Yong-Wha Lee, Dong Hwan Lee, Jerry Vockley +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Biochemical and Molecular Research #Folate and B Vitamins Research #Metabolism and Genetic Disorders