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(intellectual disability, autosomal recessive 56) 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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Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...In total, 111 pathogenic variants were found in 62 different genes among the 81 pe …

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …

Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.

Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN. Toktaş İ, et al. Turk J Pediatr. 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. Turk J Pediatr. 2022. PMID: 36583880 Free article.

BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified and treated early, severe intellectual disability and developmental delay occur. ...As a result of further diagnostic testing …

BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified …

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