Results 71 to 80 of about 159,600 (311)

Fabry heterozygote mimicking multiple sclerosis [PDF]

BMJ Case Reports, 2017
Fabry’s disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued.
Wai Yan Yau, Marzena J Fabis-Pedrini, Allan G Kermode   +2 more
openaire   +2 more sources

Exposure to pesticides and heterozygote genotype of GSTP1-Alw26I are associated to Parkinson's disease.

Arquivos de Neuro-Psiquiatria, 2013
OBJECTIVE This study aimed to analyze the frequency of GSTP1-Alw26I polymorphism and to estimate its association with toxic substances in Parkinson's disease (PD).
G. S. Longo, M. Pinhel, C. Sado, M. Gregório, G. S. Amorim, G. Florim, C. Mazeti, D. Martins, F. N. Oliveira, W. Tognola, M. Nakazone, D. Souza   +11 more
semanticscholar   +1 more source

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans [PDF]

, 2007
The most common, life-threatening autosomal recessive disease of Europeans and Euro-Americans, cystic fibrosis (CF), occurs predominately in patients with the F508del mutation.1 Although F508del is currently detectable as a single allele in 1/30-1/40 ...
Cedric Le Marechal, Claude Ferec, Malika Siker, Maria Teschler-Nicola, Philip Farrell   +4 more
core   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Frontiers in Cardiovascular Medicine
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment.
Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Federico Pieruzzi, Antonio Pisani   +12 more
doaj   +1 more source

Multiple-locus heterozygosity, physiology and growth at two different stages in the life cycle of the Chilean oyster Ostrea chilensis [PDF]

, 1996
A random sample of 150 individuals of a laboratory-produced cohort of Ostrea chilensis Philippi, 1845 was taken at 10 and 36 mo of age to estimate physiological variables and individual heterozygosity using 4 loci (Lap, Pgi, Pgm and Ca).
Gallegillos, R., Toro, J.E., Vergara, A.M.   +2 more
core   +2 more sources

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China

Human Genomics, 2023
Background G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity.
Ziyan Li, Zhenyi Huang, Yanxia Liu, Yunshan Cao, Yating Li, Yanping Fang, Meiying Huang, Zixi Liu, Lijuan Lin, Lingxiao Jiang   +9 more
doaj   +1 more source

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability [PDF]

, 2021
Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, GoHun Seo, Duangrurdee Wattanasirichaigoon   +4 more
openalex   +1 more source