Results 91 to 100 of about 4,948 (165)

Incidence and risk factors of ocular complications among patients with homocystinuria in Saudi Arabia: a cross-sectional study. [PDF]

Ann Med Surg (Lond)
Alzwaihri AS, Almasoudi EA, Hadrawi MT, Danish EY, Alasmari FF, Ahmed HA.   +5 more
europepmc   +1 more source

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI. [PDF]

Front Radiol
Ran Y, Li W, Huo Y, Yu S, Dong Z, Tian C.   +5 more
europepmc   +1 more source

Does Capillary or Intravenous Collection of Dried Blood Spots Affect the Results of Amino Acid and Acylcarnitine Profile Studied with Tandem Mass Spectrometry? [PDF]

Metabolites
Kadıoğlu Yılmaz B, Sivrikaya A, Ünlü A.   +2 more
europepmc   +1 more source

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population. [PDF]

Front Pediatr
Shafique K, Raza A, Naushad A, Hussain F, Walid D, Wareth L, El-Hattab AW, Bedair RN, Al Dweik R, Sadier NS.   +9 more
europepmc   +1 more source

Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience. [PDF]

Mol Genet Metab Rep
Sadiku F, Rutz T, Superti-Furga A, Monney P, Tran C.   +4 more
europepmc   +1 more source

Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study. [PDF]

Genes (Basel)
Ferraro C, Giliani S, Pezzini A.
europepmc   +1 more source

Engineered bacteria: a novel era for metabolic, cardiovascular and cerebrovascular diseases therapy. [PDF]

Front Cardiovasc Med
Wu Y, Sang R, Chen X, Wang S.
europepmc   +1 more source

Epigenetics of Homocystinuria, Hydrogen Sulfide, and Circadian Clock Ablation in Cardiovascular-Renal Disease. [PDF]

Curr Issues Mol Biol
Tyagi SC.
europepmc   +1 more source

Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns. [PDF]

NPJ Genom Med
Huang Y, Gao Y, Duan Z, Jia X, Sun Y, Liu C, Huang H, Liu J, Pan S, Jin X, Fang M.   +10 more
europepmc   +1 more source

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs. [PDF]

Metabolites
Tommolini ML, Cufaro MC, Valentinuzzi S, Cicalini I, Zucchelli M, Frisco A, Simonetti S, Perrone Donnorso M, Moccia S, Bucci I, Aricò M, De Laurenzi V, Federici L, Pieragostino D, Rossi C.   +14 more
europepmc   +1 more source