Publications and posters

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Publi&Posters

Check our latest publications & posters

Poster
Mosaicism in the PHEX gene. Is it more common than we thought?
6-9 June 2020, ESHG, Virtual Editon

Familial X-linked hypophosphatemic rickets (XLHR) is defined as a group of disorders characterized by rickets with bone deformities, short stature, dental anomalies, hypophosphatemia and increased activity of serum alkaline phosphatases. According to the bibliography, pathogenic variants in the PHEX gene are the most common cause of XLHR and only a few cases of mosaicism have been […]

Poster
Reflections on using Laboratory Genetic Counsellors in the Genomic Era
October 2019, UK

Knowing that we find ourselves in the Genomic Era, where researchers and clinicians have started to use the knowledge of genomics to improve health; the presence of genetic counsellors are becoming increasingly necessary within laboratories themselves. The current demand in both public and private centres for exomic and genomic tests […]

Poster
A Deletion and a Duplication in the same Chromosome by Array CGH
June 2019, Gothemburg, Sweden

Partial duplications and deletions in the same chromosome are very rare events, usually sporadic They could be due to a parental paracentric inversion of that chromosome, non allelic homologous recombination (or to an abnormal cross linking during meiosis. Also, the phenotypic expression of both aneuploidies could be highly variable and the etiological mechanism is complex […]

Poster
Reflections on using Laboratory Genetic Counsellors in the Genomic Era
October 2019, Wellcome Genome Campus, UK

Knowing that we find ourselves in the Genomic Era, where researchers and clinicians have started to use the knowledge of genomics to improve health the presence of genetic counsellors are becoming increasingly necessary within laboratories themselves The current demand in both public and private centres for exomic and genomic tests shows the importance of conducting genetic […]

Publicacion
Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: a report of 2 potentially treatable cases
Mar 2019, Barcelona, Spain

Methylmalonic acidaemia with homocystinuria is an infrequent inborn error of vitamin B12 (cobalamin) metabolism. It is caused by defects in the synthesis of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), leading to decreased activity of the corresponding enzymes methylmalonyl-CoA mutase (MUT;609058) and 5-methyltetrahydrofolate-homocysteine methyltransferase, also known as methionine synthase […]

Poster
METHYLMALONIC ACIDEMIA COMBINED WITH HOMOCYSTINURIA TYPE CblD (CblD-MMA/HC): 3rd CASE OF GYPSY ETNIA DETECTED IN OUR LABORATORY.
2019, Santander, Spain

Vitamin B12 (cobalamin) is metabolised to methylcobalamin and adenosylcobalamin, two essential coenzymes for maintaining intracellular homeostasis of homocysteine (HC) and methylmalonic acid (MMA). Acquired or inherited imbalances in the metabolism of cobalamin (Cbl) can lead to accumulations of HC and/or MMA in plasma and urine […]

Poster
METHYLMALONIC ACIDEMIA COMBINED WITH HOMOCYSTINURIA TYPE CblD CblD MMA/HC): REGARDING TWO CASES
2017, Barcelona, España

Methylmalonic acidemia with homocystinuria, included in the remethylation disorders of homocysteine to methionine, is a rare congenital error of vitamin B12 metabolism (cobalamin). There are four complementation groups of cobalin defects (cblC, cblD, cblF and cblJ), associated with methylmalonic acidemia with homocystinuria (MMA/HC). The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which lead to decreased activity of the respective enzymes methylmalonyl-CoA mutase and methionine synthase. CblD-MMA/HC is caused by mutations in the MMADHC gene (2q23.2) with an autosomal recessive inheritance pattern […]

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