المؤلفون: Jordanna Mora, Herbert L. Bonkovsky, Amy L. White, Raynah Lobo, Gary Spitzer, Silvia Tortorelli, Elizabeth L. Frank, Randolph M. Young, Karl E. Anderson, Denise Salazar, Mary Schloetter

المصدر: The American Journal of the Medical Sciences. 362:113-121

مصطلحات موضوعية: Acute hepatic porphyria, medicine.medical_specialty, Abdominal pain, Diagnostic methods, business.industry, Porphobilinogen Synthase, Biochemical diagnosis, General Medicine, Primary care, 030204 cardiovascular system & hematology, Physicians, Primary Care, Porphyrias, Hepatic, 03 medical and health sciences, 0302 clinical medicine, Practice Guidelines as Topic, medicine, Humans, 030212 general & internal medicine, Symptom onset, Differential diagnosis, medicine.symptom, Intensive care medicine, Urine sample, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c885eaa7e3bc48715d44699a2a4691
https://doi.org/10.1016/j.amjms.2021.03.004

المؤلفون: Noh Jin Park, Beryl Crossley, Charles M. Strom, Reuben Bonilla-Guerrero, Rajesh Sharma, Denise Salazar, Craig Morgan, Raynah Lobo

المصدر: Open Journal of Genetics. :61-66

مصطلحات موضوعية: chemistry.chemical_classification, Genetics, endocrine system, Mutation, Genomics, Biology, HEXA, medicine.disease_cause, Molecular biology, DNA sequencing, Enzyme, chemistry, medicine, Hexosaminidase, Family history, Carrier screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::43e0cc35e40b28ce535229999249a56c
https://doi.org/10.4236/ojgen.2013.31007

المؤلفون: Charles M. Strom, Noh Jin Park, Weimin Sun, Rajesh Sharma, Craig Morgan, Yuanyin Li, Julie Neidich, Denise Salazar, Joy B Redman, Raynah Lobo

المصدر: Pediatric research. 67(2)

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, beta-Hexosaminidase alpha Chain, Sequence analysis, Population, DNA Mutational Analysis, Late onset, Biology, Sensitivity and Specificity, DNA sequencing, Predictive Value of Tests, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, education, chemistry.chemical_classification, Genetics, education.field_of_study, Tay-Sachs Disease, Nucleic acid sequence, Clinical Enzyme Tests, HEXA, Molecular biology, Enzyme, Phenotype, chemistry, Pediatrics, Perinatology and Child Health, Mutation, Female, Carrier screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dafc59e0d60ff63a38fdbd922c62599
https://pubmed.ncbi.nlm.nih.gov/19858779