Results 101 to 110 of about 288,978 (228)

Annotating the human genome with Disease Ontology [PDF]

, 2009
Background The human genome has been extensively annotated with Gene Ontology for biological functions, but minimally computationally annotated for diseases.
Chisholm, Rex L, Danila, Maria I, Feng, Gang, Flatow, Jared, Holko, Michelle, Kibbe, Warren A, Lin, Simon M, Osborne, John D, Zhu, Lihua (Julie)   +8 more
core   +4 more sources

The electroencephalogram in hepato-lenticular degeneration (Wilson's disease) [PDF]

, 1962
The literature on EEG's in hepato-lenticular degeneration has been reviewed; over half of 80 reported patients had abnormal tracings. Eight additional EEG's on seven patients are presented; two definitely abnormal, three borderline and three normal ...
Heller, Grant L., Kooi, Kenneth A.
core   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, Volume 12, Issue 9, Page 1421-1424, September 2025.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Resolved Psychosis after Liver Transplantation in a Patient with Wilson’s Disease [PDF]

A psychiatric involvement is frequently present in Wilson’s disease. Psychiatric symptoms are sometimes the first and only manifestation of Wilson’s disease.
Akil M, Daniela Riccio, Davis EJ, Demelia L, Desmet VJ, DuBois RS, Eggers B, Giagheddu M, Gill HH, Gill HH, Gwirtsman HE, Huang CC, Kassam N, Keller R, Keller R, Loudianos G, Luigi Demelia, Lyne J, Margherita Sini, Mauro Carta, McDonald LV, Orazio Sorbello, Petrukhin K, Rathbun JK, Schilsky ML, Steinl P, Stiller P, Terada K, Walshe JM, Walter G, Walter G, Wilson SAK   +31 more
core   +2 more sources

Anemia following zinc treatment for Wilson’s disease: a case report and literature review

BMC Gastroenterology, 2019
Background Zinc therapy is considered an effective and safe treatment for Wilson’s disease. Hypocupremia-related anemia is rarely reported after long-term zinc administration or combination therapy with copper-chelating agent. Case presentation We herein
Sha Cai, Jing-Yu Gong, Jing Yang, Jian-She Wang   +3 more
doaj   +1 more source

Penicillamine Neurotoxicity: An Hypothesis [PDF]

Penicillamine, dimethyl cysteine, thiovaline, remains the drug of choice for the treatment of patience with Wilson disease. It is also of value in the treatment of cysteinuria and rheumatoid arthritis, it has also been suggested that it has value in the ...
Walshe, J. M.
core   +2 more sources

Metabolic balances of sulfur in patients with hepatolenticular degeneration and effect of the use of D-penicillamine Balanços metabólicos do enxôfre em pacientes com degeneração hepatolenticular e efeito da administração de D-penicilamina

Arquivos de Neuro-Psiquiatria, 1969
The metabolic balances of sulfur in two cases of hepatolenticular degeneration were studied. A positive balance was found in both cases; in one patient submitted to mixed diet, the average was significantly higher than the normal mean. The administration
Horacio M. Canelas, Francisco B. De Jorge, Waldir A. Tognola   +2 more
doaj  

Wilson’s Disease. Onset and Complex Diagnosis: Clinical Case

Вопросы современной педиатрии
Background. The low prevalence of Wilson’s disease, diversity of clinical signs, long latent course, inheritance features make it difficult to diagnose and require multidisciplinary approach from doctors. Clinical case description. This article describes
Elena S. Zastelo, Elvira N. Fedulova, Anastasiya N. Gabrikevich, Tatiana V. Skochilova, Anatoly I. Khavkin   +4 more
doaj   +1 more source

A case report on neurological Wilson disease in an adolescent boy [PDF]

Wilson disease is an inherited metabolic multi-system disease that affects primarily the liver and brain. The cirrhotic liver combined with degenerative changes in lenticular nuclei of brain gives it the name of hepatolenticular degeneration.
Anurag, Paul, Sarmistha, Ratan, Piyush, Shankar, Udvaw, Shankhwar, Rajat K.   +4 more
core   +2 more sources

Spasmodic Muscle Cramps and Wilson Disease

Pediatric Neurology Briefs, 2013
Investigators at Ann & Robert H. Lurie Children's Hospital of Chicago report a case of Wilson disease (WD) in a 10-year-old-boy presenting with 3 months of increasingly severe spasmodic muscle cramps and weakness in lower extremities, upper extremities ...
J Gordon Millichap
doaj   +1 more source