Results 151 to 160 of about 13,719 (226)

CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets. [PDF]

Int J Mol Sci
Braun M, Bloch I, Sherill-Rofe D, Canavati C, Sharon E, Tabach Y.   +5 more
europepmc   +1 more source

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria. [PDF]

JAAD Case Rep
Minder AE, Barman-Aksözen J.
europepmc   +1 more source

Acute hepatic porphyrias. [PDF]

Porto Biomed J
Marques I, Marcos P.
europepmc   +1 more source

Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population. [PDF]

Int J Mol Sci
Buianova AA, Cheranev VV, Shmitko AO, Vasiliadis IA, Samitova AF, Suchalko ON, Repinskaia ZA, Kuznetsov MI, Belova VA, Korostin DO.   +9 more
europepmc   +1 more source

Recommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations. [PDF]

Orphanet J Rare Dis
Schmolly K, Rudrapatna V, Beaven S.
europepmc   +1 more source

The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]

Ann Clin Transl Neurol
Pacut P, Cannon J, Dixit N, Fan Q.
europepmc   +1 more source

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]

JIMD Rep
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +1 more source

When Recurrent Pancreatitis Is Not Pancreatitis: Cyclic Vomiting Syndrome Masquerading as Acute Pancreatitis in a Young Adult. [PDF]

Cureus
Ottu Para NK, Kalakappara S, Abubacker MTM.   +2 more
europepmc   +1 more source

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists. [PDF]

Hepatol Commun
Ricci A, Corradini E, Buzzetti E, Pietrangelo A, Pietrangelo A, Ventura P, Modena Centre of Rare Diseases - Porphyria Working Group.   +6 more
europepmc   +1 more source