Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homocystinuria: Challenges in diagnosis and management

1 Nov 1999

Abstract excerpt

Two patients with homocystinuria are discussed. Both patients presented with behavioural abnormalities and deficits in attention - symptoms that are frequently encountered in paediatric office practice. In both cases, the diagnosis of homocystinuria was not made at initial presentation. Subtle but definite phenotypic features eventually provided the first indication of homocystinuria between the ages of five to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Folate and B Vitamins Research
Share to Metabolism and Genetic Disorders
Share to Neonatal Health and Biochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20213008
DOI: 10.1093/pch/4.8.557

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homocystinuria: Challenges in diagnosis and managementPMID 20213008Read ↗

Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experienceSemantic proximity Read ↗

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfactionSemantic proximity Read ↗

Varied phenotypic presentations of homocystinuria in two siblings.Semantic proximity Read ↗

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study databaseSemantic proximity Read ↗

Treatment of Inherited HomocystinuriasSemantic proximity Read ↗

Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.Semantic proximity Read ↗

Juvenile Batten disease: A diagnostic conundrum.Semantic proximity Read ↗

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.Semantic proximity Read ↗

A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder.Semantic proximity Read ↗

"Mild" hyperphenylalaninemia? A case series of seven treated patients following newborn screening.Semantic proximity Read ↗

Pitfalls in the diagnosis of 5α-reductase type 2 deficiency during early infancy.Semantic proximity Read ↗

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.