Results 81 to 90 of about 718 (127)

P269: The genetic prevalence of molybdenum cofactor deficiency as a result of MOCS1 and MOCS2: A genetics and biostatistics perspective

Genetics in Medicine Open
Ishita Patel, Ethan Su, Katreya Lovrenert, Donald Bodner, Fredrick Schumacher, Chen-Han Wilfred Wu   +5 more
doaj   +1 more source

Development of a novel prognostic prediction model using mitochondrial-related genes and single-cell sequencing data for colorectal carcinoma. [PDF]

Transl Gastroenterol Hepatol
Xie S, Zhang J, Sun B, Dong X, Wang X, Song J, Zhang C, He X.   +7 more
europepmc   +1 more source

Efeitos da metformina sobre a homeostase mitocondrial e redox em modelos celular e animal para a deficiência da sulfito oxidase [PDF]

A deficiência do cofator molibdênio (MoCD) é uma doença hereditária rara que afeta o metabolismo do enxofre, com grave sintomatologia, que ocorre devido a mutações nos genes que codificam enzimas envolvidas na biossíntese do cofator de molibdênio. Apesar
Brondani, Morgana
core  

Molybdenum cofactor-deficient mice resemble the phenotype of human patients

, 2002
Human molybdenum cofactor deficiency is a rare and devastating autosomal-recessive disease for which no therapy is known. The absence of active sulfite oxidase-a molybdenum cofactor-dependent enzyme-results in neonatal seizures and early childhood death.
Schwarz, Günter, Kneussel, Matthias, Lee, Heon-Jin, Engel, Wolfgang, Adham, Ibrahim M., Sass, Jörn O., Reiss, Jochen   +6 more
core  

Genome-Wide Association Studies of Milk Composition Traits in Holstein Cattle Raised in Tropical and Subtropical Conditions. [PDF]

Animals (Basel)
Silva EFP, Gaia RC, Mulim HA, Pinto LFB, Iung LHS, Brito LF, Pedrosa VB.   +6 more
europepmc   +1 more source

Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy. [PDF]

J Clin Med
Etchegaray A, Haffner D, Cruz SM, Ogunleye O, Xia J, Schlegel A, Olutoye OO, Chaudhari BP.   +7 more
europepmc   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria. [PDF]

Ann Med Surg (Lond)
Kardah H, Al-Zoubi H, Odeh Z, Joumaa R, Alasmar D.   +4 more
europepmc   +1 more source

Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology. [PDF]

Curr Opin Urol
Wagner CA, Sayer JA, Straub M.
europepmc   +1 more source

Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection. [PDF]

BMC Neurol
Shi Z, Zhu J, Cao B, Tian Y, Yu J, Hou C, Zhu H, Wang X, Peng B, Zhang Y, Zheng K, Li X, Gao Y.   +12 more
europepmc   +1 more source