Results 71 to 80 of about 11,139 (183)

From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon

Molecular Therapy: Nucleic Acids
Propionic acidemia is a rare autosomal recessive disorder caused by mutations in the PCCA or PCCB gene, resulting in deficient propionyl-CoA carboxylase activity.
Eriko Totsune, Yoichi Wada, Yasuko Mikami-Saito, Natsuko Arai-Ichinoi, Naoya Saijo, Jun Takayama, Yasuhiro Maeda, Yoko Nakajima, Osamu Ohara, Shigeo Kure, Atsuo Kikuchi   +10 more
doaj   +1 more source

A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia

Iranian Journal of Allergy, Asthma and Immunology, 2015
Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the ...
Faegheh Alizadeh Najjarbashi, Mehrnaz Mesdaghi, Mohammadreza Alaei, Marjan Shakiba, Aliakbar Jami, Farah Ghadimi   +5 more
doaj  

Methylmalonic acidemia

Kidney International, 1979
openaire   +2 more sources

Case Report: When cardiomyopathy is the clue: late-presenting propionic acidemia manifesting as acute heart failure. [PDF]

Front Pediatr
Nti BK, Trapp N, Ali A, Lanpher B, Weatherhead J.   +4 more
europepmc   +1 more source

CTG-FRAME: development and validation of a multi‑modal deep learning for intrapartum escalation support and severe fetal acidemia prediction. [PDF]

BMC Med Inform Decis Mak
Tjondronegoro D, Yuwono EI, Costa FDS.
europepmc   +1 more source

Fetal Acidemia Prediction Using a Random Forest Model With Cumulative Fetal Stress Assessment During Labor. [PDF]

J Obstet Gynaecol Res
Ito A, Nagayasu Y, Mitsuhashi R, Kamiya M, Hayata E, Nakata M.   +5 more
europepmc   +1 more source

Sodium bicarbonate therapy in severe metabolic acidemia: an individual patient data meta-analysis of the BICAR-ICU and BICAR-ICU2 trials. [PDF]

Crit Care
Fosset M, Pensier J, Jabaudon M, Bitker L, De Jong A, Chanques G, Huguet H, Molinari N, Jaber S, Jung B.   +9 more
europepmc   +1 more source

Which RRT initiations does sodium bicarbonate prevent in severe metabolic acidemia? [PDF]

Crit Care
Zhou X, Liu H, Hua Z.
europepmc   +1 more source

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds. [PDF]

ACS Omega
Zhi HJ, Ding Y, Deng YX, Chen T, Cao Y, Chang SY, Zhan X, Xu F, Hao LL, Liang LL, Qiu WJ, Zhang HW, Gu XF, Han LS.   +13 more
europepmc   +1 more source

Correction: Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia. [PDF]

Mol Cell Pediatr
Alsuhaymi S, AlMalki RH, Al Mogren M, Alodaib A, Emwas AH, Dasouki M, Alfares A, Jaremko M, Abdel Rahman AM.   +8 more
europepmc   +1 more source