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Molecular Genetics and Metabolism Reports

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https://www.readbyqxmd.com/read/30386727/fabry-disease-in-a-japanese-population-molecular-and-biochemical-characteristics
#1
Hitoshi Sakuraba, Takahiro Tsukimura, Tadayasu Togawa, Toshie Tanaka, Tomoko Ohtsuka, Atsuko Sato, Tomoko Shiga, Seiji Saito, Kazuki Ohno
We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then. In this study, we summarized the data of the patients and tried to elucidate the molecular and biochemical characteristics of Japanese Fabry patients. Gene analysis revealed various GLA mutations, including missense mutations (56.5%, 48 types); nonsense mutations (15.9%, 13 types); deletions (12...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364808/corticobasal-syndrome-in-a-man-with-gaucher-disease-type-1-expansion-of-the-understanding-of-the-neurological-spectrum
#2
Kunal C Potnis, Lauren B Flueckinger, Stephanie M DeArmey, Roy N Alcalay, Jeffrey W Cooney, Priya S Kishnani
Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case reports often reflect patients with classical Parkinson's disease (PD) symptoms. We report a patient with GD type 1 who was diagnosed with corticobasal syndrome (CBS), a clinical atypical parkinsonism diagnosis, in his sixth decade of life...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364764/stroke-like-episodes-in-coenzyme-q-deficiency-may-respond-to-no-precursors-and-non-mitochondrion-toxic-antiepileptic-drugs
#3
Josef Finsterer
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30364670/living-with-phenylketonuria-lessons-from-the-pku-community
#4
Suzanne Ford, Mike O'Driscoll, Anita MacDonald
Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. Methods: In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018 by the NSPKU (National Society for Phenylketonuria). Results: 631 participants (adults, n  = 338; parents/caregivers of children, n  = 293) with PKU completed the questionnaire...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30310767/novel-heterozygous-mutations-in-the-pgam2-gene-with-negative-exercise-testing
#5
M Sidhu, L Brady, G D Vladutiu, M A Tarnopolsky
Pathogenic variants in the PGAM2 gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal muscle. We report here a patient diagnosed with GSDX at 52 years of age with a normal increase in post-exercise lactate with both anaerobic and aerobic exercise. Genetic testing found two novel PGAM2 variants (c.426C > A, p.Tyr142Ter and c.533delG, p.Gly178Alafs*31).
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294546/the-first-pediatric-case-of-glucagon-receptor-defect-due-to-biallelic-mutations-in-gcgr-is-identified-by-newborn-screening-of-elevated-arginine
#6
Hong Li, Lihua Zhao, Rani Singh, J Nina Ham, Doris O Fadoju, Lora J H Bean, Yan Zhang, Yong Xu, H Eric Xu, Michael J Gambello
Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for elevations of glutamine (normal ammonia), alanine (normal lactate), dibasic amino acids (arginine, lysine and ornithine), threonine and serine. She initially was brought to medical attention by an elevated arginine on newborn screening (NBS) and treated for presumed arginase deficiency with a low protein diet, essential amino acids formula and an ammonia scavenger drug...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294545/antiepileptic-treatment-may-determine-the-outcome-of-fars2-mutation-carriers
#7
Josef Finsterer, Fulvio A Scorza, Carla A Scorza
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294544/cytokines-levels-in-late-diagnosed-classical-homocystinuria-patients
#8
Soraia Poloni, Marina Siebert, Karina Carvalho Donis, Giovana R Weber Hoss, Henk J Blom, Ida V D Schwartz
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30294543/stroke-like-episodes-in-coenzyme-q-deficiency-may-respond-to-no-precursors-and-non-mitochondrion-toxic-antiepileptic-drugs
#9
Josef Finsterer
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30271721/metallosis-mimicking-a-metabolic-disorder-a-case-report
#10
Karolina M Stepien, Zaza Abidin, Graham Lee, Rachel Cullen, Patricia Logan, Gregory M Pastores
Metalic prosthesis or occupational exposure are potential sources of systemic cobalt and chromium ion toxicity. The resultant multisystemic clinical presentation can lead to unnecessary investigations before a final etiologic diagnosis is made; with an average delay of a year or more commonly noted. A 58-year old man presented with cardiomyopathy, pericardial effusion, polycytaemia, polyneuropathy, visual impairment, sudden hearing loss and hypothyroidism over a 2-year period post a metal-on-polyethylene hip replacement surgery...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30228975/analysis-of-gbe1-mutations-via-protein-expression-studies-in-glycogen-storage-disease-type-iv-a-report-on-a-non-progressive-form-with-a-literature-review
#11
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include non-progressive form (NP-GSD IV) and adult polyglucosan body disease (APBD). Thus far, only one clinical case of a patient with compound heterozygous mutations has been reported for the molecular analysis of NP-GSD IV. This study aimed to elucidate the molecular basis in a NP-GSD IV patient via protein expression analysis and to obtain a clearer genotype-phenotype relationship in GSD IV...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30228974/fourteen-new-mutations-of-bckdha-bckdhb-and-dbt-genes-associated-with-maple-syrup-urine-disease-msud-in-malaysian-population
#12
Ernie Zuraida Ali, Lock-Hock Ngu
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes; BCKDHA , BCKDHB and DBT , which represent E1α, E1β and E2 subunits of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, respectively. This study presents the molecular characterization of 31 MSUD patients. Twenty one mutations including 14 new mutations were identified. The BCKDHB gene was the most commonly affected (45.2%) compared to BCKDHA gene (16...
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30225196/coenzyme-q10-deficiency-due-to-a-coq4-gene-defect-causes-childhood-onset-spinocerebellar-ataxia-and-stroke-like-episodes
#13
Annet M Bosch, Erik-Jan Kamsteeg, Richard J Rodenburg, Arend W van Deutekom, Dennis R Buis, Marc Engelen, Jan-Maarten Cobben
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30225195/whole-exome-sequencing-may-be-insufficient-to-cover-the-causality-spectrum-of-rhabdomyolysis
#14
Josef Finsterer, Sinda Zarrouk-Mahjoub
No abstract text is available yet for this article.
December 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30211005/fabry-disease-a-potential-pitfall-a-family-with-a-novel-intronic-mutation
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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