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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/30211005/fabry-disease-a-potential-pitfall-a-family-with-a-novel-intronic-mutation
#1
Gustavo Cabrera, Fernando Perretta
Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We report two cases of homozygous patients with an intronic alpha-galactosidase gene mutation and a classic phenotype of the disease...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30211004/quantification-of-11-enzyme-activities-of-lysosomal-storage-disorders-using-liquid-chromatography-tandem-mass-spectrometry
#2
Mari Ohira, Torayuki Okuyama, Ryuichi Mashima
Lysosomal storage disorders (LSDs) are characterized by the accumulation of lipids, glycolipids, oligosaccharides, mucopolysaccharides, and other biological substances because of the pathogenic deficiency of lysosomal enzymes. Such diseases are rare; thus, a multiplex assay for these disorders is effective for the identification of affected individuals during the presymptomatic period. Previous studies have demonstrated that such assays can be performed using liquid chromatography-tandem mass spectrometry (LC-MS/MS) with multiple reaction monitoring (MRM) detection...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30181955/molecular-and-clinical-characterization-of-citrin-deficiency-in-a-cohort-of-chinese-patients-in-hong-kong
#3
S C Chong, P Lo, C W Chow, L Yuen, W C W Chu, T Y Leung, J Hui, F Scaglia
BACKGROUND AND OBJECTIVES: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time. PATIENTS AND METHODS: Data from medical records of eighteen patients with citrin deficiency (years 2006-2015) were retrieved. Demographic data, biochemical parameters, radiological results, genetic testing results, management, and clinical outcome were collected and analysed...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30181954/response-to-finsterer-and-zarrouk-mahjoub
#4
Nyamkhishig Sambuughin, Jonathan Smith, Francis O'Connor, Patricia Deuster
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30175046/dilative-arteriopathy-in-pompe-disease-may-not-only-affect-the-cerebral-arteries
#5
Josef Finsterer
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30101073/early-feeding-practices-in-infants-with-phenylketonuria-across-europe
#6
A Pinto, S Adams, K Ahring, H Allen, M F Almeida, D Garcia-Arenas, N Arslan, M Assoun, Y Atik Altınok, D Barrio-Carreras, A Belanger Quintana, S M Bernabei, C Bontemps, F Boyle, G Bruni, M Bueno-Delgado, G Caine, R Carvalho, A Chrobot, K Chyż, B Cochrane, C Correia, K Corthouts, A Daly, S De Leo, A Desloovere, A De Meyer, A De Theux, B Didycz, M E Dijsselhof, K Dokoupil, J Drabik, C Dunlop, W Eberle-Pelloth, K Eftring, J Ekengren, I Errekalde, S Evans, A Foucart, L Fokkema, L François, M French, E Forssell, C Gingell, C Gonçalves, H Gökmen Özel, A Grimsley, G Gugelmo, E Gyüre, C Heller, R Hensler, I Jardim, C Joost, M Jörg-Streller, C Jouault, A Jung, M Kanthe, N Koç, I L Kok, T Kozanoğlu, B Kumru, F Lang, K Lang, I Liegeois, A Liguori, R Lilje, O Ļubina, P Manta-Vogli, D Mayr, C Meneses, C Newby, U Meyer, S Mexia, C Nicol, U Och, S M Olivas, C Pedrón-Giner, R Pereira, K Plutowska-Hoffmann, J Purves, A Re Dionigi, K Reinson, M Robert, L Robertson, J C Rocha, C Rohde, S Rosenbaum-Fabian, A Rossi, M Ruiz, J Saligova, A Gutiérrez-Sánchez, A Schlune, K Schulpis, J Serrano-Nieto, A Skarpalezou, R Skeath, A Slabbert, K Straczek, M Giżewska, A Terry, R Thom, A Tooke, J Tuokkola, E van Dam, T A M van den Hurk, E M C van der Ploeg, K Vande Kerckhove, M Van Driessche, A M J van Wegberg, K van Wyk, C Vasconcelos, V Velez García, J Wildgoose, T Winkler, J Żółkowska, J Zuvadelli, A MacDonald
Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe. Methods: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094188/pathogenic-and-rare-deleterious-variants-in-multiple-genes-suggest-oligogenic-inheritance-in-recurrent-exertional-rhabdomyolysis
#7
Nyamkhishig Sambuughin, Ognoon Mungunsukh, Mingqiang Ren, John F Capacchione, Iren Horkayne-Szakaly, Kevin Chuang, Sheila M Muldoon, Jonathan K Smith, Francis G O'Connor, Patricia A Deuster
Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies and mitochondrial disorders, a clinically and genetically heterogeneous group of predominantly autosomal recessive, monogenic conditions. Although genetics factors are well recognized in recurrent rhabdomyolysis, the underlying causes and mechanisms of exercise-driven muscle breakdown remain unknown in a substantial number of cases...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094187/a-step-closer-in-defining-glycosylphosphatidylinositol-anchored-proteins-role-in-health-and-glycosylation-disorders
#8
Emanuela Manea
Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of soluble proteins attached to the external leaflet of the plasma membrane by a post-translation modification, the GPI anchor. The 28 genes currently involved in the synthesis and remodelling of the GPI anchor add to the ever-growing class of congenital glycosylation disorders. Recent advances in next generation sequencing technology have led to the discovery of Mabry disease and CHIME syndrome genetic aetiology. Moreover, with each described mutation known phenotypes expand and new ones emerge without clear genotype-phenotype correlation...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094186/morquio-b-patient-caregiver-survey-first-insight-into-the-natural-course-of-a-rare-glb1-related-condition
#9
Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu
Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neuronopathic features of GM1 II/III (juvenile/adult) gangliosidosis have been reported in some patients. Our patient/caregiver online survey was aimed at elucidating the clinical manifestations of this ultra-rare condition...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094185/clinical-and-molecular-characteristics-of-colombian-patients-with-mucopolysaccharidosis-iva-and-description-of-a-new-galns-gene-mutation
#10
Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto
A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV. To enhance the knowledge of the disease in the country, we aimed to characterize clinical and molecular findings in 12 MPS IVA patients. Twelve patients were included in the study, with most patients of female gender ( n  = 7, 58,3%), age range 2 to 28 years, average weight 26 kg (17...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094184/double-dose-alglucosidase-alpha-doubles-benefit
#11
Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Carla A Scorza, Antonio Carlos Almeida
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30094183/expanding-the-spectrum-of-pex16-mutations-and-novel-insights-into-disease-mechanisms
#12
Kishore R Kumar, Gautam Wali, Ryan L Davis, Amali C Mallawaarachchi, Elizabeth E Palmer, Velimir Gayevskiy, Andre E Minoche, David Veivers, Marcel E Dinger, Alan Mackay-Sim, Mark J Cowley, Carolyn M Sue
Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16 , an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic variants in PEX16 [NM_004813.2:c.658G>A, p.(Ala220Thr) and NM_004813.2:c.830G>A, p.(Arg277Gln)] in an individual with leukodystrophy, spastic paraplegia, cerebellar ataxia, and craniocervical dystonia with normal plasma very long chain fatty acids. Using olfactory-neurosphere derived cells, a population of neural stem cells, we showed patient cells had reduced peroxisome density and increased peroxisome size, replicating previously reported findings in PEX16 cell lines...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30090701/suspicion-of-mitochondrial-disease-remains-frequently-unconfirmed-after-whole-exome-sequencing
#13
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30090700/renal-artery-fibromuscular-dysplasia-in-pompe-disease-a-case-report
#14
Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. We propose that the association of LOPD and arteriopathy should always be considered in clinical practice...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30069431/living-with-phenylketonuria-in-adulthood-the-pku-attitude-study
#15
Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci, Vincenzo Leuzzi, Filippo Manti, Antonella Musumeci, Francesco Papadia, Vera Stoppioni, Albina Tummolo, Marcella Vendemiale, Giulia Polo, Alberto Burlina
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey ( n  = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30013935/long-term-outcomes-in-amish-patients-diagnosed-with-propionic-acidemia
#16
Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K Held
Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30013934/neurocognitive-assessments-and-long-term-outcome-in-an-adult-with-2-methyl-3-hydroxybutyryl-coa-dehydrogenase-deficiency
#17
Karolina M Stepien, Philomena McCarthy, Eileen P Treacy, James J O'Byrne, Gregory M Pastores
Background: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid in body fluids as a consequence of a disruption in isoleucine metabolism. The clinical presentation is heterogeneous, including a neurodegenerative course with retinopathy and cardiomyopathy leading to death in early childhood and a slowly progressive disease associated with learning disability and survival into adulthood...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30013933/extra-muscular-manifestations-of-tk2-deficiency
#18
Ayman W El-Hattab, Julia Wang, Lee-Jun Wong
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29992091/response-to-finsterer-cpt-ii-deficiency-needs-to-be-detected-in-army-personnel
#19
M Balasubramanian, T M Jenkins, R J Kirk, I M Nesbitt, S E Olpin, M Hill, G T Gillett
No abstract text is available yet for this article.
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29988937/the-impact-of-common-genetic-variants-in-the-mitochondrial-glycine-cleavage-system-on-relevant-metabolites
#20
Jessica O'Reilly, Faith Pangilinan, Karsten Hokamp, Per M Ueland, John T Brosnan, Margaret E Brosnan, Lawrence C Brody, Anne M Molloy
The glycine cleavage system (GCS) is a complex of four enzymes enabling glycine to serve as a source of one-carbon units to the cell. We asked whether concentrations of glycine, dimethylglycine, formate, and serine in blood are influenced by variation within GCS genes in a sample of young, healthy individuals. Fifty-two variants tagging (r2  < 0.9) the four GCS genes were tested; one variant, GLDC rs2297442-G, was significantly associated ( p  = .0007) with decreased glycine concentrations in serum...
September 2018: Molecular Genetics and Metabolism Reports
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