Results 161 to 170 of about 4,590,707 (207)

Integrative bioinformatics analysis identifies APOE as a candidate link between lipid dysregulation and macrophage activation in inborn errors of metabolism. [PDF]

Front Pharmacol
Satria RD, Kusuma RH, Isnani N, Sukorini U, Ratnaningsih T, Herningtyas EH, Intansari US, Windarwati, Harahap NIF, Syaifullah PH, Hikmatul KR, Bodiwan LL, Prabasaktya RW, Santoso NM, Darmawan MAPA, Mugiyanto E, Ardianto B, Irham LM, Lin CF, Chen CL, Adikusuma W.   +20 more
europepmc   +1 more source

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine. [PDF]

Cureus
Li OM, Li Y, Li SXT.
europepmc   +1 more source

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source

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

Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations in <i>Methylmalonyl-CoA Mutase</i>. [PDF]

MicroPubl Biol
Pournasr B, Duncan S.
europepmc   +1 more source

Clinical, magnetic resonance imaging, and neuropathological features of suspected inborn methylmalonic aciduria in a domestic shorthair kitten. [PDF]

J Vet Intern Med
Fisher C, Degl'Innocenti S, Ortiz A, Major A, Rawson F, Scarin G, Fadda A.   +6 more
europepmc   +1 more source

Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood. [PDF]

BMC Neurol
Vikhe V, Shaik MH, Khaire P, Patil R, Chakraborty A.   +4 more
europepmc   +1 more source

Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt. [PDF]

Eur J Pediatr
Abdelrazic MI, Hemeda MS, Abd-Elaziz MA, Mahmoud AR, Abuelela IS.   +4 more
europepmc   +1 more source

Emerging Quantitative Targeted Metabolomics Approaches for Future Inborn Errors of Metabolism Screening. [PDF]

Diagnostics (Basel)
Osman SA, Malki A, Al-Sulaiti H, Al-Dirbashi OY, Elrayess MA.   +4 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