Results 111 to 120 of about 8,730 (170)

Zonular compromise: A narrative review of indicators and management strategies. [PDF]

Saudi J Ophthalmol
Fairaq R, Alshaikh L, Khan SA, Helayel HB, Al Habash A, Almutlak M.   +5 more
europepmc   +1 more source

Spontaneous anterior lens dislocation: case report and surgical management. [PDF]

Int J Surg Case Rep
Schargel K, Bajaeifer Y, Alwalemani M, Alamoudi S.   +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

"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

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review. [PDF]

Mol Syndromol
Aslan D, Uctepe E, Yesilyurt A, Esen FN, Dalgıç B.   +4 more
europepmc   +1 more source

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Homocystinuria

Archives of Neurology, 1965
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the brains of two homocystinuric children, however, the concentration was found to be extremely low in all the areas examined.
H H, White, L P, Rowland, S, Araki, H L, Thompson, D, Cowen   +4 more
  +6 more sources

Homocystinuria

The American Journal of the Medical Sciences, 1977
Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution.
J A, Vázquez García, J J, Zarranz Imirizaldu, F, Arruza Lozano, P, Echániz Aizpuru, M A, Y Tovar   +4 more
openaire   +4 more sources

Cystathioninuria and homocystinuria

Clinica Chimica Acta, 1975
Three circumstances prompted us to reexamine the relationship between abnormal cystathionine accumulation and possible homocystinuria resulting from this condition: (a) discovery of an infant girl with apparently alternating massive cystathioninuria and homocystinuria; (b) the presence of homocystinuria in some, but not all, previously reported cases ...
H L, Levy, S H, Mudd, B W, Uhlendorf, P M, Madigan   +3 more
openaire   +2 more sources