Results 81 to 90 of about 8,730 (170)

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

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

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

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria. [PDF]

Biomedicines
Liu X, Liu X, Liu J, Guo J, Nie D, Wang J.   +5 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

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

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

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

Public Health [PDF]

, 2008
加藤 輝隆, 寺西 秀豊, 橘 信二郎, 稲寺 秀邦   +3 more
core   +2 more sources