Results 81 to 90 of about 4,948 (165)

Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice. [PDF]

Int J Mol Sci
Joschko CP, Wang CC, van Buiten A, Goris M, Hoogstra-Berends F, Wang J, Bacurio JH, Chen Y, Jia N, Deng J, Hu S, Nacht M, Chiocco MJ, Henning RH, Deelman LE.   +14 more
europepmc   +1 more source

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria. [PDF]

Mol Genet Genomic Med
Zhang J, Lin X, Liu X, Lu Y, Tao D, Yu D, Ma Y.   +6 more
europepmc   +1 more source

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect. [PDF]

Front Cardiovasc Med
Xu D, Zhang C, Hao L, Bi S, Xue A, Yuan L, Wang W.   +6 more
europepmc   +1 more source

Novel Homozygous MTHFR Variant Causing Homocystinuria: Subtle Phenotypic Clues in Carriers. [PDF]

AACE Endocrinol Diabetes
Pande AKR, Jha A, Thakur AK, Talat Z.
europepmc   +1 more source

Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody positivity: a case report. [PDF]

Thromb J
Wang Y, Li R, Li C.
europepmc   +1 more source

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

Mol Med Rep
Althubity AA.
europepmc   +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

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +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

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria. [PDF]

JIMD Rep
Dilanthi HW, Jayasena KLS, Dhammika NDP, Indika NLR, De Silva MMN, Kankananarachchi I, Punchihewa PMG, Irugalbandara D, Schroeder S, Karunaratne K, Jasinge E.   +10 more
europepmc   +1 more source