Results 51 to 60 of about 353 (110)

Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'. [PDF]

Clin Med (Lond)
McCarron EP.
europepmc   +1 more source

Rarely listed essential medicines in 158 national lists. [PDF]

J Pharm Policy Pract
Ul Haq MZ, Heredia C, Rizvi A, Workentin A, Persaud N.   +4 more
europepmc   +1 more source

Recombinant Protein Drugs: A 2025 Update. [PDF]

BioDrugs
López-Laguna H, Parladé E, Favaro MTP, Palacín C, Voltà-Durán E, Ferrer-Miralles N, Corchero JL, Rodríguez-Rodríguez R, Vázquez E, Unzueta U, Villaverde A.   +10 more
europepmc   +1 more source

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report. [PDF]

Eur Heart J Case Rep
Martinsen MH, Højland A, Kvistgaard H, Bork C.   +3 more
europepmc   +1 more source

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening. [PDF]

Int J Neonatal Screen
de Castro Lopez MJ, White FJ, Holmes V, Roberts J, Wu THY, Cooper JA, Church HJ, Petts G, Wynn RF, Jones SA, Ghosh A.   +10 more
europepmc   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts. [PDF]

Orphanet J Rare Dis
Hermida-Ameijeiras A, Blasco-Alonso J, Carrillo-Linares JL, González-Dieguez ML, Pastor-Rosado J, Morales-Conejo M, Bellusci M, Mercadal-Hally M.   +7 more
europepmc   +1 more source

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype. [PDF]

Curr Atheroscler Rep
Bourbon M, Alves AC, Chora JR, Hooper AJ, Abifadel M.   +4 more
europepmc   +1 more source

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency. [PDF]

Int J Mol Sci
Bastos KLM, Stephan BO, Linnenkamp BDW, Costa LA, Lima FR, Carvalho LML, Honjo RS, Tannuri U, Tannuri ACA, Kim CA.   +9 more
europepmc   +1 more source

Reframing the value of reserve antibiotics: how ultra-orphan reimbursement pathways could offer fair and equitable access to new antibiotics. [PDF]

Health Policy Open
Quinn J, Amersdorffer J, Boysen M, Duffy-Roger O, Hewitt C, Jain M, McKinney D, Ivezic-Schoenfeld Z, Toumi M, Vanbiervliet M, Wasem J.   +10 more
europepmc   +1 more source