Results 141 to 150 of about 24,157 (174)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report. [PDF]

JPGN Rep
Palan MJ, Simpson D, Miranda C, Hakar M, Lin HC.   +4 more
europepmc   +1 more source

FDA approval of copper histidinate (Zycubo) for Menkes disease: a therapeutic breakthrough in a rare pediatric neurodegenerative disorder. [PDF]

Ann Med Surg (Lond)
Ghani MH, Ahsan M, Raza AA, Samadi A.
europepmc   +1 more source

Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges. [PDF]

Clin Case Rep
Mohammed AAA, HabeebAllah AAM, Mohammed SSH, Almamoon AKMA, Ahmed MMB, Aref AMA, Bashir FBO, Altegani TMN, Ahmed AAE.   +8 more
europepmc   +1 more source

Genetic testing and exchangeable copper can improve the accuracy of Wilson disease diagnoses. [PDF]

Hepatol Commun
Berenguer M, Torra M, Espinós C, Andreu Escrivá R, Pocurull A, Carvalho-Gomes Â, Miralpeix A, Rojas Echarry G, Romero-Moreno S, Sanchez C, Silgo E, Palacios-Martínez C, Badenas C, Perez-Rojas J, Aguado Codina C, Mariño Z.   +15 more
europepmc   +1 more source

A novel homozygous variant in the <i>ATP7B</i> gene in a patient with Wilson's disease: a case report. [PDF]

Front Med (Lausanne)
Shavrak VE, Zhalsanova IZ, Fonova EA, Erburova DN, Kolesnikov NA, Fomenko SS, Petrova VV, Seitova GN, Stepanov VA, Skryabin NA.   +9 more
europepmc   +1 more source

Impaired Iron-Copper Metabolic Axis in Human Intestinal Mucosa After Roux-en-Y Gastric Bypass: A Prospective Transcriptomic Study Using Double-Balloon Enteroscopy. [PDF]

Obes Surg
Shimizu C, Waitzberg DL, Torrinhas RS, Heymsfield SB, Passadore MD, Sala P.   +5 more
europepmc   +1 more source

Effect of tiomolibdate choline on copper balance in patients with Wilson disease: An open-label phase 2 trial. [PDF]

Hepatol Commun
Ala A, Sandahl TD, Weiss KH, Medici V, Medici V, Robinson CD, Cittadine A, Tuffy D, Gane E, Askari FK.   +9 more
europepmc   +1 more source

A SINE-like insertion in intron 13 of the ATP7A gene is associated with a mild form of Menkes-like disease in a Cavalier King Charles Spaniel. [PDF]

J Vet Intern Med
Fulton EA, Schwarz C, Jagannathan V, Leeb T, Gutierrez-Quintana R.   +4 more
europepmc   +1 more source

Plasma Proteomic Profiling Reveals Alterations in Coagulation, Complement, and Extracellular Matrix Pathways in Orthostatic Hypotension. [PDF]

JACC Adv
Johansson M, Végvári Á, Engström G, Fedorowski A.   +3 more
europepmc   +1 more source