Results 171 to 180 of about 10,319 (231)

Diverse Clinical manifestations of Cobalamin C Metabolism Disorders. [PDF]

Iran J Child Neurol
Eslamiyeh H.
europepmc   +1 more source

Suspecting classical homocystinuria in an adolescent born before the newborn screening program

, 2019
Fábia Carvalho, Teresa Campos, Joana Reis, Mariana Portela, Carla Maria Lins de Vasconcelos, Carla Ferreira, Arnaldo Cerqueıra, Ângela Oliveira, Laura Vilarinho, Elisa Leão Teles, Esmeralda Rodrigues   +10 more
openalex   +2 more sources

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 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

Arterial stroke as an isolated manifestation of homocystinuria in an infant

, 2017
RohanR Mahale, Anish Mehta, Thomas Rau, Purushottam Acharya, Rangasetty Srinivasa   +4 more
openalex   +2 more sources

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

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

Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom [PDF]

, 2010
,, Goodship, Tim H J, Machin, Sam, Taylor, C Mark, Wigmore, Stephen J   +4 more
core   +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

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