Results 101 to 110 of about 10,319 (231)

Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene

Pediatrics and Neonatology, 2011
Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl metabolism because of mutations in the MMACHC gene located in chromosome region
Jenn-Tzong Chang, Ying-Yao Chen, Tze-Tze Liu, Mei-Ying Liu, Pao-Chin Chiu   +4 more
doaj   +1 more source

Anesthetic implications of homocystinuria: A case report [PDF]

, 2018
Surjya Prasad Upadhyay
openalex   +1 more source

Population Screening for Genetic Disease [PDF]

, 1977
Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
core   +1 more source

Cystathionine β-Synthase: Structure, Function, Regulation, and Location of Homocystinuria-causing Mutations [PDF]

, 2004
Edith Wilson Miles, Jan P. Kraus
openalex   +1 more source

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +1 more source

Homocystinuria without methylmalonic aciduria [PDF]

, 2020
INSERM
openalex   +1 more source

Relation between homocysteine and biochemical bone turnover markers and bone mineral density in peri- and post-menopausal women [PDF]

, 2017
Background: Recently, increased plasma homocysteine (Hcy) has been suggested as an independent risk factor for osteoporotic fractures. Therefore, it is tempting to speculate that Hcy adversely affects bone metabolism.
Herrmann, Markus, Herrmann, Wolfgang, Kraenzlin, Marius, Pape, Gerhard, Sand-Hill, Marga   +4 more
core  

Homocystinuria. Review of four cases. [PDF]

, 1971
Md Mijanur Rahman
openalex   +1 more source

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells [PDF]

, 2017
The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon.
Andersen, Henriette Skovgaard, Andresen, Brage Storstein, Baumgartner, Matthias, Bruun, Gitte Hoffmann, Burda, Patricie, Doktor, Thomas Koed, Fowler, Brian, Kožich, Viktor, Lutz, Seraina, Palhais, Bruno, Præstegaard, Veronica S., Sabaratnam, Rugivan, Suormala, Terttu   +12 more
core  

Protein-Bound Homocyst(e)ine in Normal Subjects and in Patients with Homocystinuria [PDF]

, 1979
Soo‐Sang Kang, Paul Wong, Nancy Becker
openalex   +1 more source