Results 1 to 10 of about 37,293 (314)

Which liver-disease patients need a transplant? [PDF]

, 1988
Gordon, RD, Iwatsuki, S, Kahn, D, Klintmalm, G, Koneru, B, Makowka, L, Marsh, JW, Sher, L, Starzl, TE, Staschak, S, Stieber, A, Todo, S, Tzakis, AG, Van Thiel, D   +13 more
core  

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz EA, Schwartz IVD, Maillot F.   +7 more
europepmc   +1 more source

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent <i>IDUA</i> Allele in Colombia. [PDF]

Int J Mol Sci
Vanegas S, Ramírez-Montaño D, Padilla-Guzmán A, Pachajoa H.   +3 more
europepmc   +1 more source

Surgery for metabolic liver disease [PDF]

, 1986
Starzl, TE
core  

The prevalence of allergic manifestations in inborn errors of immunity: a retrospective cohort study. [PDF]

BMC Immunol
Esmaeilzadeh H, Esmaeilbeig M, Askarisarvestani A, Alyasin S, Nabavizadeh SH.   +4 more
europepmc   +1 more source

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]

Commun Med (Lond)
Hao C, Hu X, Guo R, Qi Z, Xie L, Jin F, Li H, Ni X, Li W.   +8 more
europepmc   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

Correspondence on “First year result and insights from the Mexican Rare Disease Patient Registry from Cesar E. Calvo Aspiros and Claudia Gonzaga-Jauregui

Rare
Marcela Vela-Amieva, Cynthia Fernández-Lainez   +1 more
doaj   +1 more source

Imaging the Future: Diagnosing Treatable Neurometabolic Disorders in Children. [PDF]

Cureus
Eda IR, Ramachandran R, Joseph VM, Marreddy S, Mounika A.   +4 more
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source