Results 131 to 140 of about 6,563 (194)

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients. [PDF]

Sci Rep
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S.   +3 more
europepmc   +1 more source

Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders. [PDF]

Acta Med Philipp
Abacan MAR, Baltazar-Braganza KR, Cabaluna ITG, Ocampo IS, Philippine Periodic Health Examination Task Force on Screening for Congenital and Developmental Disorders.   +4 more
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +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

[Homocystinuria].

Srpski arhiv za celokupno lekarstvo, 1976
D, Vulović, Lj, Stojanov, B, Marjanović, M, Vucković, R, Hajduković   +4 more
openaire   +1 more source

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria. [PDF]

JIMD Rep
Dilanthi HW, Jayasena KLS, Dhammika NDP, Indika NLR, De Silva MMN, Kankananarachchi I, Punchihewa PMG, Irugalbandara D, Schroeder S, Karunaratne K, Jasinge E.   +10 more
europepmc   +1 more source

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