Results 241 to 250 of about 13,679,770 (330)

A rare case of Wilson disease associated with keratoconus

Indian Journal of Ophthalmology. Case Reports
Arathy S Menon, O U Mallika
doaj   +1 more source

Isolated Stiffness as a Predominant Manifestation of Wilson Disease: A Case Report. [PDF]

Clin Case Rep
Shahatta AA, Shlaka AA, Al-Badri SG, Al-Shammari AS, Naeem K, Ali AS, Rizgar H, Al-Fatlawi N, Alogaili M, Sayed SBH.   +9 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Repurposing melatonin's therapeutic potential in Wilson disease: Addressing copper overload and redox imbalance. [PDF]

Redox Biol
Pandey R, Roy AN, Sarkar S, Rohman R, Chakraborty K, Bargakshatriya R, Pandey S, Pruthwiraj, Bhattacharya D, Kumar S, Maji S, Pezacki AT, Pramanik SK, Chang CJ, Bhattacharjee A, Sengupta N, Das A, Gupta A.   +17 more
europepmc   +1 more source

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics. [PDF]

Hum Mutat
Steiner Mrázová L, Vrbacká A, Majer F, Stránecký V, Nosková L, Záhoráková D, Májovská J, Bitar I, Klempíř J, Šaligová J, Majlingová S, Giertlová M, Drenčáková P, Harvanová D, Solařová P, Brůha R, Dušek P, Kmoch S, Sikora J, Jedličková I.   +19 more
europepmc   +1 more source

Integrating Oral Health Into Complex Care: A Novel Hospital‐Ward Placement for Oral Health Students

Journal of Dental Education, EarlyView.
Melanie J. Aley, Jacqueline Biggar, Lauren A. Church   +2 more
wiley   +1 more source

Nutritional and sensory characteristics of local and hybrid East African Highland cooking bananas: Implications for breeding programs

JSFA reports, EarlyView.
Abstract Background Bananas (Musa species) are an important staple food and cash crop in many parts of the world. The East African Highland cooking bananas form the backbone of food security for millions of Ugandans. The demand for high quality cooking bananas is thus closely linked to their sensory characteristics (which drive consumer preference) and
Willy Nelson Kisenyi, Pricilla Marimo, Moses Matovu, Kephas Nowakunda, Ediriisa Mugampoza, Samuel Gafuma, Timothy Omara, Ivan Kiganda   +7 more
wiley   +1 more source

Uncovering the Critical Role of Cuproptosis in Wilson Disease: Insights Into Potential Therapeutic Targets. [PDF]

J Cell Mol Med
Tang S, Ren F, Hou W, Fan Z, Mo Y, Zhu X, Cao Y, Xu L, Zheng S.   +8 more
europepmc   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source