Results 121 to 130 of about 6,563 (194)

Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction. [PDF]

Case Rep Crit Care
Furuta Y, Walkin SN, Ward SK, Tinker RJ, Hamid R, Phillips JA, Harris RE, Cassini TA.   +7 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

Betaine as a regulator of metabolism, epigenetics, and cellular osmoprotection: therapeutic implications in cardiometabolic and renal diseases. [PDF]

Front Pharmacol
Singh SK, Yadav P, Bishnolia M, Manhar N, Kumar P, Navik U, Weiskirchen R.   +6 more
europepmc   +1 more source

Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort. [PDF]

Children (Basel)
Lee CY, Niu DM, Yang CF, Chen YJ.
europepmc   +1 more source

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

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

Out-of-pocket expenditures, accessibility, and affordability of low-protein nutrition in rare metabolic disorders in Türkiye. [PDF]

BMC Health Serv Res
Yeşildal M, Erişen MA, Eşgi M.
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

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