Results 141 to 150 of about 10,319 (231)

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

, 2015
Frederick T. Collison, Ya‐Jing Xie, Tomasz Gambin, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Gerald A. Fishman, Rando Allikmets   +8 more
openalex   +1 more source

Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review). [PDF]

Mol Med Rep
Althubity AA.
europepmc   +1 more source

Therapeutic targets in homocystinuria due to cystathionine β-synthase deficiency: new European guidelines [PDF]

, 2016
Bridget Wilcken
openalex   +1 more source

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients. [PDF]

Sci Rep
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S.   +3 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Clinical diversity in pediatric homocystinuria: A case series of siblings

, 2023
Babar Naeem, Javeria Nasim, Muhammad Irfan, Hina Ayesha   +3 more
openalex   +1 more source

P006. Clinical management of migraine attributed to cerebral venous sinus thrombosis [PDF]

, 2015

core   +1 more source

Overview of homocystinuria - types, symptoms and treatment

, 2016
Georgi Shopov, Meriyan Radeva, Ersin Ismail, Alexander Boyadzhiev   +3 more
openalex   +2 more sources

Lens fringe in homocystinuria. [PDF]

, 1975
M. S. Ramsey, D. Howard Dickson
openalex   +1 more source

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI. [PDF]

Front Radiol
Ran Y, Li W, Huo Y, Yu S, Dong Z, Tian C.   +5 more
europepmc   +1 more source