Results 71 to 80 of about 2,863,419 (210)

Dihydrolipoamide dehydrogenase deficiency in two unrelated Tunisian children

BMC Pediatrics
Background Dihydrolipoamide dehydrogenase deficiency (DLDD) (OMIM# 246,900) is an extremely rare inherited metabolic disorder causing neurological and/or liver impairment.
Hajer Aloulou, Fatma Charfi, Rim Charfi, Amel Ben Chehida, Hela Boudabbous, Imen Chabchoub, Elise Lebigot, Thouraya Kammoun, Ines Maaloul   +8 more
doaj   +1 more source

A Large PROP1 Gene Deletion in a Turkish Pedigree

Case Reports in Endocrinology, 2018
Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and
Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas   +2 more
doaj   +1 more source

Complement genetics, deficiencies, and disease associations [PDF]

Protein & Cell, 2012
The complement system is a key component of innate immunity. More than 45 genes encoding the proteins of complement components or their isotypes and subunits, receptors, and regulators have been discovered. These genes are distributed throughout different chromosomes, with 19 genes comprising three significant complement gene clusters in the human ...
openaire   +2 more sources

High risk of severe anaemia after chlorproguanil-dapsone+artesunate antimalarial treatment in patients with G6PD (A-) deficiency. [PDF]

, 2008
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited human enzyme defect. This deficiency provides some protection from clinical malaria, but it can also cause haemolysis after administration of drugs with oxidant ...
Modiano David, Fanello, C. I., Modiano, D., Karema, C., Lee, Sue, Bancone Germana, Uwimana, A, KAREMA C, Avellino Pamela, David Modiano, UWIMANA A, Uwimana, A., Fanello, CI, Germana Bancone, d'Alessandro Umberto, LEE SJ, Umberto d'Alessandro, Uwimana, Aline, Karema, C, Lee Sue J., Avellino, P, Modiano, D, Karema Corine, Pamela Avellino, Karema, Corine, D'Alessandro, U., D'ALESSANDRO U, Bancone, Germana, d'Alessandro, Umberto, Fanello Caterina I., Modiano, David, FANELLO CI, Fanello, Caterina I, Lee, S. J., Lee, Sue J, Sue J Lee, Corine Karema, Uwimana Aline, Aline Uwimana, D'Alessandro, U, Avellino, Pamela, Avellino, P., Caterina I Fanello, Bancone, G.   +43 more
core   +2 more sources

Genetic Screening of Deficiency of Uridine Monophosphate Synthase (Dumps), Bovine Citrullinaemia (BC) and Factor Xi Deficiency (Fxid) in Hardhenu, Sahiwal and Hariana Bulls

International Journal of Bio-Resource and Stress Management, 2020
Genetic disorder is an inborn genetic abnormalities in animals that is due to mutation in genes which are quite rare and recessive in nature. Propagation of mutated alleles constitute a danger whose negative effect often become evident only after ...
Ankit Magotra, C. S. Patil, B. S. Malik, Asha Rani Garg   +3 more
doaj  

MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Radiology Case Reports, 2019
Adenylosuccinate lyase deficiency is a rare genetic disorder with few reported cases in the United States. Magnetic resonance imaging findings in the brain include hypomyelination and low generalized parenchymal volume.
Samar Kayfan, BA, Rana M. Yazdani, BS, Samantha Castillo, MD, Kevin Wong, DO, Jeffrey H. Miller, MD, Cory M. Pfeifer, MD   +5 more
doaj   +1 more source

Folate levels modulate oncogene‐induced replication stress and tumorigenicity

EMBO Molecular Medicine, 2015
Chromosomal instability in early cancer stages is caused by replication stress. One mechanism by which oncogene expression induces replication stress is to drive cell proliferation with insufficient nucleotide levels.
Noa Lamm, Karin Maoz, Assaf C Bester, Michael M Im, Donna S Shewach, Rotem Karni, Batsheva Kerem   +6 more
doaj   +1 more source

Molecular genetics of human lactase deficiencies

Annals of Medicine, 2009
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population.
Irma, Järvelä, Suvi, Torniainen, Kaija-Leena, Kolho   +2 more
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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International Journal of Neonatal Screening
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS)
Toby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, Eric Chun-Yiu Law, Jana Cheung, Tsz Ki Wong, Vincent Wing-Sang Cheng, Jacky Kwan Ho Lee, Jimmy Chi Lap Wong, Cheuk Wing Fung, Kiran Moti Belaramani, Anne Mei Kwun Kwok, Kwok Yeung Tsang   +12 more
doaj   +1 more source

Genetics of ısolated growth hormone deficiency

Journal of Clinical Research in Pediatric Endocrinology, 2010
When a child is not following the normal, predicted growth curve, an evaluation for underlying illnesses and central nervous system abnormalities is required, and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency (GHD). Because Insulin-like Growth Factor-I (IGF-I) plays a pivotal role, GHD could also be
openaire   +3 more sources