PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 43 results sorted by: Most RecentSee all results in PubMed (43)
Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.
BMC Med Genomics. 2023. PMID: 37041529 Free PMC article.
Genetic etiology and clinical challenges of phenylketonuria.
Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
BMC Neurol. 2022. PMID: 35614401 Free PMC article.
Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome.
Ophthalmic Genet. 2021. PMID: 33974487
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2021. PMID: 33200442