Therapeutic effect of N-carbamylglutamate in CPS1 deficiency
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Yohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, Tomohiro Ebihara, Yoshina Kinouchi, Keitaro Isozaki, Tetsuro Matsuhashi, Makiko Tajika, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoki Ishida, Kayo Mizutani, Tomoko Tsuruoka, Kei Murayama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 10, 2020 Category: Genetics & Stem Cells Source Type: research

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 8, 2020 Category: Genetics & Stem Cells Source Type: research

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): J.E. Abdenur, M. Sowa, M. Simon, M. Steenari, J. Skaar, S. Eftekharian, R. Chang, S. Ferdinandusse, J. Pitt (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 5, 2020 Category: Genetics & Stem Cells Source Type: research

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Eri Imagawa, George A. Diaz, Kimihiko Oishi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 30, 2020 Category: Genetics & Stem Cells Source Type: research

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Aizeddin A. Mhanni, Christiane Auray-Blais, Michel Boutin, Alie Johnston, Kaye LeMoine, Jill Patterson, Johannes M.F.G. Aerts, Michael L. West, Cheryl Rockman-Greenberg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 24, 2020 Category: Genetics & Stem Cells Source Type: research

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, Maria Contaldo, Vincenzo Piccolo, Maria Esposito, Giuseppe Costa, Giuseppe Argenziano, Rosario Serpico, Marco Carotenuto, Gerarda Cappuccio, Sandro Banfi, Paolo Melillo, Francesca Simonelli (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 21, 2020 Category: Genetics & Stem Cells Source Type: research

Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Jennifer Bennett, Marina Kerr, Steven C. Greenway, Marisa W. Friederich, Johan L.K. Van Hove, Dustin Hittel, Aneal Khan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 8, 2020 Category: Genetics & Stem Cells Source Type: research

Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Rie Chida-Naomiya, Masaru Shimura, Ryuhei Nagao, Atsushi Kumada, Hisashi Kawashima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 7, 2020 Category: Genetics & Stem Cells Source Type: research

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 5, 2020 Category: Genetics & Stem Cells Source Type: research

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 5, 2020 Category: Genetics & Stem Cells Source Type: research

PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Mohammed A. Almuqbil, Hilary J. Vernon, Marcia Ferguson, Antonie D. Kline (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 4, 2020 Category: Genetics & Stem Cells Source Type: research

Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Karamjot Sidhu, Steven K. Boyd, Aneal Khan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Andrea Gropman, Martine Uittenbogaard, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Anne Chiaramello (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

First 1.5 years of pegvaliase clinic: Experiences and outcomes
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 26, 2020 Category: Genetics & Stem Cells Source Type: research

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 26, 2020 Category: Genetics & Stem Cells Source Type: research

Pharmacokinetics of oral l-serine supplementation in a single patient
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Danny E. Miller, Carlos R. Ferreira, Anna I. Scott, Irene J. Chang (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 23, 2020 Category: Genetics & Stem Cells Source Type: research

Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Lalitha R. Belur, Kelly M. Podetz-Pedersen, Thuy An Tran, Joshua A. Mesick, Nathaniel M. Singh, Maureen Riedl, Lucy Vulchanova, Karen F. Kozarsky, R. Scott McIvor (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 21, 2020 Category: Genetics & Stem Cells Source Type: research

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 19, 2020 Category: Genetics & Stem Cells Source Type: research

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Bun Sheng, Ka Fai Yim, Lin Kiu Lau, Han Chih Hencher Lee, Ka Shun Samuel Fung, Ka Fai Johnny Ma, Wai Leung Chak (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 17, 2020 Category: Genetics & Stem Cells Source Type: research

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Yoshimitsu Osawa, Aya Wada, Yoshiaki Ohtsu, Kenji Yamada, Takumi Takizawa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 17, 2020 Category: Genetics & Stem Cells Source Type: research

Body fat percentage in adolescents with phenylketonuria and associated factors
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Giovanna Caliman Camatta, Viviane de Cássia Kanufre, Michelle Rosa Andrade Alves, Rosângelis Del Lama Soares, Rocksane de Carvalho Norton, Marcos José Burle de Aguiar, Ana Lúcia Pimenta Starling (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

Kidney and vascular function in adult patients with hereditary fructose intolerance
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Nynke Simons, François-Guillaume Debray, Nicolaas C. Schaper, Edith J.M. Feskens, Carla E.M. Hollak, Judith A.P. Bons, Jörgen Bierau, Alfons J.H.M. Houben, Casper G. Schalkwijk, Coen D.A. Stehouwer, David Cassiman, Martijn C.G.J. Brouwers (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Melissa Sailer, Gabriela Elizondo, Julie Martin, Cary O. Harding, Melanie B. Gillingham (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 12, 2020 Category: Genetics & Stem Cells Source Type: research

The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Nicole Ducich, Nicholas Ah Mew, Jirair K. Bedoyan (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 9, 2020 Category: Genetics & Stem Cells Source Type: research

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 8, 2020 Category: Genetics & Stem Cells Source Type: research

Progressive macrophage accumulation in lysosomal acid lipase deficiency
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Patryk Lipiński, Joanna Cielecka-Kuszyk, Anna Bożkiewicz-Kasperczyk, Barbara Perkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Monique Piraud, Magali Pettazzoni, Marie de Antonio, Christine Vianey-Saban, Roseline Froissart, Brigitte Chabrol, Sarah Young, Pascal Laforêt, French Pompe study group (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - May 2, 2020 Category: Genetics & Stem Cells Source Type: research

Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Yin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu-Jen Tsai, Siew-Lee Wong, Ni-Chung Lee, Wuh-Liang Hwu (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2020 Category: Genetics & Stem Cells Source Type: research

Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Paul A. Dawson, Soohyun Lee, Adam D. Ewing, Johannes B. Prins, Helen S. Heussler (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 30, 2020 Category: Genetics & Stem Cells Source Type: research

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Eva M.M. Hoytema van Konijnenburg, Ilse K. Luirink, Sebastian E.E. Schagen, Marc Engelen, Kevin Berendse, Bwee Tien Poll-The, Malika Chegary (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 29, 2020 Category: Genetics & Stem Cells Source Type: research

Health Related Quality of Life assessment among early-treated Hungarian adult PKU patients using the PKU-QOL adult questionnaire
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): András Gellért Barta, Csaba Sumánszki, Zsófia Turgonyi, Erika Kiss, Erika Simon, Csilla Serfőző, Péter Reismann (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 23, 2020 Category: Genetics & Stem Cells Source Type: research

Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria – Is nitisinone the solution?
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): A.S. Davison, E. Luangrath, E. Selvi, L.R. Ranganath (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 17, 2020 Category: Genetics & Stem Cells Source Type: research

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 10, 2020 Category: Genetics & Stem Cells Source Type: research

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 10, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Shahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, Hane Lee, Wayne W. Grody, Stanley F. Nelson, Katrina M. Dipple (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

Expression analysis of genes involved in mitochondrial biogenesis in mice with MPTP-induced model of Parkinson's disease
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): M.M. Rudenok, A.Kh. Alieva, J.S. Starovatykh, M.S. Nesterov, V.A. Stanishevskaya, A.A. Kolacheva, M.V. Ugryumov, P.A. Slominsky, M.I. Shadrina (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Jess G. Thoene, Monte A. DelMonte, Jodi Mullet (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 8, 2020 Category: Genetics & Stem Cells Source Type: research

The PKU & ME study: A qualitative exploration, through co-creative sessions, of attitudes and experience of the disease among adults with phenylketonuria in Italy
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Lidia Borghi, Carlotta Moreschi, Alessandra Toscano, Peter Comber, Elena Vegni (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - April 4, 2020 Category: Genetics & Stem Cells Source Type: research

Mtrr hypomorphic mutation alters liver morphology, metabolism and fuel storage in mice
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Alice P. Sowton, Nisha Padmanabhan, Simon J. Tunster, Ben D. McNally, Antonio Murgia, Aisha Yusuf, Julian L. Griffin, Andrew J. Murray, Erica D. Watson (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 26, 2020 Category: Genetics & Stem Cells Source Type: research

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Anja F. Köhn, Lorenz Grigull, Marcel du Moulin, Sarah Kabisch, Luise Ammer, Cornelia Rudolph, Nicole M. Muschol (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 24, 2020 Category: Genetics & Stem Cells Source Type: research

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Camille Desprairies, Apolline Imbard, Bérengère Koehl, Mathie Lorrot, Jean Gaschignard, Julie Sommet, Samia Pichard, Laurent Holvoet, Albert Faye, Malika Benkerrou, Jean-François Benoist, Manuel Schiff (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 18, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Wanee Plengpanich, Suwanna Muanpetch, Supannika Charoen, Arunrat Kiateprungvej, Weerapan Khovidhunkit (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 11, 2020 Category: Genetics & Stem Cells Source Type: research

Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Barbara Trimarco, Filippo Manti, Francesca Nardecchia, Sergio Melogno, Mara Testa, Giovanni Meledandri, Claudia Carducci, Roberta Penge, Vincenzo Leuzzi (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 10, 2020 Category: Genetics & Stem Cells Source Type: research

Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Meera Patrawala, Merin Kuruvilla, Hong Li (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - March 7, 2020 Category: Genetics & Stem Cells Source Type: research

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): MarthaL. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 28, 2020 Category: Genetics & Stem Cells Source Type: research

Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson, The PKU Lost to Follow-Up Recommendations Group (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 25, 2020 Category: Genetics & Stem Cells Source Type: research

Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião CunhaAbstractBackgroundThe common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our stu...
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research