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("hyperthyroxinemia, familial dysalbuminemic"[tiab:~0]) AND ("english and humans"[Filter]) AND ( ("practice guideline"[Filter]) OR (practice*[titl] AND (guideline[titl] OR parameter[titl] OR resource[titl] OR bulletin[titl] OR best[titl])) OR (genetic*[titl] AND (evaluation[titl] OR counseling[titl] OR screening[titl] OR test*[titl])) OR (clinical[titl] AND ((expert[titl] AND consensus[titl]) OR utility[titl] OR guideline*[titl])) OR (management[titl] AND (clinical[titl] OR diagnos*[titl] OR recommendation[titl] OR pain[titl] OR surveillance[titl] OR emergency[titl] OR guideline*[titl] OR therap*)) OR (treatment[titl] AND ((evaluation[titl] AND diagnosis[titl]) OR (assessment[titl] AND prevention[titl]) OR therap*)) OR (Diagnos*[titl] AND (prenatal[titl] OR treatment[titl] OR follow-up[titl] OR statement[titl] OR criteria[titl] OR newborn[titl] OR differential[titl] OR neonatal[titl] OR neonate[titl])) OR (guideline*[titl] AND (pharmacogenetic*[titl] OR recommendation[titl] OR therap*[titl] OR evidence-based[titl] OR consensus[titl] OR (technical[titl] AND standard*[titl]) OR (molecular[titl] AND testing[titl]))) OR (risk[titl] AND assessment[titl]) OR (recommendation*[titl] AND (statement[titl] OR Evidence-based[titl] OR Consensus[titl])) OR (care AND ((Patient[titl] AND standard*[titl]) OR primary[titl] OR psychosocial[titl])) OR (Health[titl] AND supervision[titl]) OR (statement[titl] AND (policy[titl] OR position[titl] OR Consensus[titl])) OR (pharmacogenetics[titl] AND (Dosing[titl] OR therap*[titl] OR genotype*[titl] OR drug*[titl])) OR (Chemotherapy[titl] AND decision*[titl]) OR (screening[titl] AND (newborn[titl] OR neonat*[titl] OR detection[titl] OR diagnos*[titl])) OR (criteria[titl] OR genotype*[titl]) ) NOT ("Case reports"[Publication type] OR "clinical study"[Publication Type] OR "randomized controlled trial"[Publication Type])

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1999	1
2009	1
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Structural investigations of a new familial dysalbuminemic hyperthyroxinemia genotype.

Petersen CE, Ha CE, Harohalli K, Park DS, Feix JB, Isozaki O, Bhagavan NV. Petersen CE, et al. Clin Chem. 1999 Aug;45(8 Pt 1):1248-54. Clin Chem. 1999. PMID: 10430791

BACKGROUND: In a previous study, we found that the amino acid substitution R218H in human serum albumin (HSA) was the cause of familial dysalbuminemic hyperthyroxinemia (FDH) in several Caucasian patients. ...

BACKGROUND: In a previous study, we found that the amino acid substitution R218H in human serum albumin (HSA) was the cause of familial …

Elevated free thyroxine levels detected by a neonatal screening system.

Tajima T, Jo W, Fujikura K, Fukushi M, Fujieda K. Tajima T, et al. Pediatr Res. 2009 Sep;66(3):312-6. doi: 10.1203/PDR.0b013e3181b1bcbd. Pediatr Res. 2009. PMID: 19542904

Between January 2000 and December 2006, 83,232 newborns were screened. Eleven infants demonstrated persistent hyperthyroxinemia. One patient with slightly elevated free T4 and normal TSH was diagnosed as having familial dysalbuminemic hyperthyroxinemia …

Between January 2000 and December 2006, 83,232 newborns were screened. Eleven infants demonstrated persistent hyperthyroxinemia. One …

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