Results 51 to 60 of about 1,225,648 (255)

Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis

, 2002
Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene.
Stephenson, Peter, Wallace, D.F., Subramaniam, V. Nathan, Stephenson, P., Searle, J.W., Dixon, Jeannette L., Powell, Lawrie W., Pedersen, P., Pedersen, Palle, Dixon, J.L., Powell, L.W., Wallace, Daniel F., Searle, Jeffrey W., Subramaniam, V.N.   +13 more
core   +1 more source

Autosomal dominant polycystic kidney disease diagnosed in utero. Review [PDF]

, 2016
Autosomal dominant polycystic kidney disease (ADPKD) is one of most common inherited renal diseases. It is estimated that very early onset ADPKD affects even 2% patients.
Wiecheć, Marcin, Huras, Hubert, Radoń-Pokracka, Małgorzata, Jach, Robert, Górecka, Joanna, Nowak, Magdalena; Department of Obstetrics and Perinatology, Jagiellonian University Medical College, Krakow, Poland, Nowak, Magdalena   +6 more
core   +1 more source

The impact of tolvaptan on autosomal dominant polycystic kidney disease – literature review

Studia Medyczne
This article presents current data from international literature on the impact of tolvaptan on autosomal dominant polycystic kidney disease (ADPKD). The authors have reviewed the latest clinical research literature.
Anna Gruszczyńska, Krzysztof Kowalik, Grażyna Dutkiewicz, Anna Rakoczy, Andrzej Modrzejewski   +4 more
doaj   +1 more source

Familial Hypokalemic Periodic Paralysis: A Case Report [PDF]

Düzce Tıp Fakültesi Dergisi, 2010
Familial hypokalemic periodic paralysis is an autosomal dominantly inherited congenital diseasecharacterized by intermittent attacks of muscle weakness lasting for a few hours to a few daysand occurring a few times a year or once a day.
Semih KORKUT, Hayati KANDİŞ, Harun GÜNEŞ, Esin KORKUT
doaj  

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source

Polycystic Kidney Disease–Related Disease Burden in Adolescents With Autosomal Dominant Polycystic Kidney Disease: An International Qualitative StudyPlain-Language Summary

Kidney Medicine, 2022
Rationale & Objective: Little is known about symptoms and disease impacts in adolescents with autosomal dominant polycystic kidney disease (ADPKD).
Dorothee Oberdhan, Franz Schaefer, Jason C. Cole, Andrew C. Palsgrove, Ann Dandurand, Lisa Guay-Woodford   +5 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene.

, 2006
Item does not contain fulltextBACKGROUND: Autosomal-dominant isolated GH deficiency (IGHD) is a rare disorder that is commonly believed to be due to heterozygous mutations in the GH-1 gene (GH-1).
Mullis, Primus E, Salvatori, R., Salemi, Souzan, Ubertini, G., Ubertini, Graziamaria, Otten, B.J., Fintini, D., Fintini, Danilo, Mullis, P.E., Cambiaso, P., Otten, Barto, Salemi, S., Salvatori, Roberto, Cambiaso, Paola, Mullis, Primus-Eugen   +14 more
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source