Results 1 to 10 of about 4,846 (139)

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source

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

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

Editorial: The role of nutrition in pediatric chronic diseases: a focus on metabolic, genetic, and palliative care challenges. [PDF]

Front Nutr
Guida F, Zama D, Lanari M.
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

Five hundred million years of hunger: how animals evolved to survive essential amino acid scarcity. [PDF]

Emerg Top Life Sci
Pickard BS.
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