Results 191 to 200 of about 10,319 (231)

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]

Genes (Basel)
Michieletto P, Baldo F, Madonia M, Zupin L, Pensiero S, Bonati MT.   +5 more
europepmc   +1 more source

Homocysteine in the Cardiovascular Setting: What to Know, What to Do, and What Not to Do. [PDF]

J Cardiovasc Dev Dis
D'Elia S, Morello M, Titolo G, Caso VM, Solimene A, Luisi E, Serpico C, Morello A, La Mura L, Loffredo FS, Natale F, Golino P, Cimmino G.   +12 more
europepmc   +1 more source

Homocystinuria with bilateral absolute glaucoma.

, 1986
BR Kalra, S Ghose, NN Sood
openalex   +1 more source

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics. [PDF]

Mol Genet Metab Rep
Georgiou T, Grafakou O, Malekkou A, Athanasiou E, Ioannou I, Choleva V, Dionysiou M, Mavrikiou G, Demetriadou A, Anastasiadou V, Drousiotou A, Petrou PP.   +11 more
europepmc   +1 more source

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review. [PDF]

Metabol Open
Ren Y, Dang H, Fu Y, Liu C, Li J, Cai J.
europepmc   +1 more source

Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data. [PDF]

Mol Genet Metab Rep
Jain M, Shah M, Thakker KM, Rava A, Block AP, Ndiba-Markey C, Pinto L.   +6 more
europepmc   +1 more source

Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review. [PDF]

Int J Neonatal Screen
Brennan MM, O'Connell A, O'Grady L, Elsammak M, Brady JJ, Marsden P, Burns H, Collins A.   +7 more
europepmc   +1 more source

Homocystinuria symptomatology collected through an international patient-report data program as a source of natural history data

Brittany Parke, Danae Bartke, Geo Beek, Kimberly Chapman, Joshua J. Baker, Janet Thomas   +5 more
openalex   +1 more source

Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient. [PDF]

JACC Case Rep
Solís Chávez MB, Montero Cruces L, Romiti S, Saiz-Pardo Sanz M, Maroto Castellanos LC.   +4 more
europepmc   +1 more source