Results 211 to 220 of about 13,177 (269)

"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective. [PDF]

Orphanet J Rare Dis
Pokrzywinski R, Bartke D, Clucas C, Machuzak K, Pinto L.   +4 more
europepmc   +1 more source

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 more
europepmc   +1 more source

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience. [PDF]

JIMD Rep
Mohamed AS, AlAnzi T, Alhashem A, Alrukban H, Al Harbi F, Mohamed S.   +5 more
europepmc   +1 more source

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement. [PDF]

Children (Basel)
Pavone P, Pappalardo XG, Scrofani F, Falsaperla R, Pizzo F, Polizzi A, Corsello A, Consentino MC, Parano E, Ruggieri M.   +9 more
europepmc   +1 more source

A High-Fat Diet Induces Epigenetic 1-Carbon Metabolism, Homocystinuria, and Renal-Dependent HFpEF. [PDF]

Nutrients
Tyagi SC.
europepmc   +1 more source

The Role of Metabolic Disorders in the Development of Waxy Flexibility in Patients with Catatonic Schizophrenia. [PDF]

Iran J Psychiatry
Abdollahi R.
europepmc   +1 more source

Ectopia lentis. [PDF]

Arq Bras Oftalmol
Borges L, Almeida NBM, Kara-Júnior N.
europepmc   +1 more source