SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 23, 2020 Category: Genetics & Stem Cells Source Type: research

Altered IHH signaling contributes to reduced chondrocyte proliferation in the growth plate of MPS VII mice
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Zhirui Jiang, Ainslie L.K. Derrick-Roberts, Sharon Byers (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kloth Katja, Vater Inga, Lindschau Ramona, Caliebe Almuth, Muschol Nicole Maria (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Mohammed H. AlBanji, Abdulaziz N. AlSaad, Riyam F. AlAnazi, Zahra A. Aleisa, Dalya S. Alam, Aqeela H. Alhashim (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Grant Bonesteele, J. Jay Gargus, Emily Curtin, Mabel Tang, Barry Rosenbloom, Virginia Kimonis (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): M. Kreile, O. Lubina, I. Ozola-Zalite, R. Lugovska, N. Pronina, O. Sterna, P. Vevere, M. Konika, I. Malniece, L. Gailite (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Melissa J. Hogan, Kim Stephens, Erin Smith, Elizabeth R. Jalazo, Christian J. Hendriksz, Lloyd J. Edwards, Kendra J. Bjoraker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 22, 2020 Category: Genetics & Stem Cells Source Type: research

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kenta Sugiura, Toru Kubo, Yuri Ochi, Yuichi Baba, Takayoshi Hirota, Naohito Yamasaki, Hiroaki Kitaoka (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 20, 2020 Category: Genetics & Stem Cells Source Type: research

Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Fu-Shiuan Lee, Hsiu-Ju Yen, Dau-Ming Niu, Giun-Yi Hung, Chih-Ying Lee, Yi-Chen Yeh, Paul Chih-Hsueh Chen, Sheng-Kai Chang, Chia-Feng Yang (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 20, 2020 Category: Genetics & Stem Cells Source Type: research

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Juliana Maria Fagundes Verch, Bruna Bento dos Santos, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 20, 2020 Category: Genetics & Stem Cells Source Type: research

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 20, 2020 Category: Genetics & Stem Cells Source Type: research

Lipid changes in the metabolome of a single case study with maple syrup urine disease (MSUD) after five days of improved diet adherence of controlled branched-chain amino acids (BCAA)
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Teresa D. Douglas, L. Kristin Newby, Julie Eckstrand, Douglas Wixted, Rani H. Singh (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 15, 2020 Category: Genetics & Stem Cells Source Type: research

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N. Prasad, Akshya Vasudev, Andrew Mantulak, Beth K. Potter, Chitra Prasad (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 6, 2020 Category: Genetics & Stem Cells Source Type: research

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 4, 2020 Category: Genetics & Stem Cells Source Type: research

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kristen N. Lee, Wendy Uhlmann, Lauren Hipp, Shane C. Quinonez (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 3, 2020 Category: Genetics & Stem Cells Source Type: research

Altered visual functions, macular ganglion cell and papillary retinal nerve fiber layer thickness in early-treated adult PKU patients
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Csilla Serfozo, Andras Gellert Barta, Endre Horvath, Csaba Sumanszki, Bela Csakany, Miklos Resch, Zoltan Zsolt Nagy, Peter Reismann (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 23, 2020 Category: Genetics & Stem Cells Source Type: research

The effects of early-treated phenylketonuria on volumetric measures of the cerebellum
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kristina Aldridge, Kimberly K. Cole, Amanda J. Moffitt Gunn, Dawn Peck, Desirée A. White, Shawn E. Christ (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 19, 2020 Category: Genetics & Stem Cells Source Type: research

Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Ali Zaki Ibrahim, D. Thirumal Kumar, Taghreed Abunada, Salma Younes, C. George Priya Doss, Osama K. Zaki, Hatem Zayed (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 17, 2020 Category: Genetics & Stem Cells Source Type: research

Combined donor-recipient genotypes of leptin receptor and adiponectin gene polymorphisms affect the incidence of complications after renal transplantation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Sonia Mota-Zamorano, Enrique Luna, Guadalupe Garcia-Pino, Luz M. González, Guillermo Gervasini (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 13, 2020 Category: Genetics & Stem Cells Source Type: research

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 10, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 8, 2020 Category: Genetics & Stem Cells Source Type: research

The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Randall C. Mazzarino, Veronika Baresova, Marie Zikánová, Nathan Duval, Terry G. Wilkinson, David Patterson, Guido N. Vacano (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 2, 2020 Category: Genetics & Stem Cells Source Type: research

Clinical presentation of seven patients with Methylenetetrahydrofolate reductase deficiency
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Nada Aljassim, Majid Alfadhel, Marwan Nashabat, Wafa Eyaid (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 2, 2020 Category: Genetics & Stem Cells Source Type: research

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Melike Ersoy, Valeria Tiranti, Massimo Zeviani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 29, 2020 Category: Genetics & Stem Cells Source Type: research

Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Miroslaw Bik-Multanowski, Anna Madetko-Talowska, Iwona Betka, Elzbieta Swieczka, Bozena Didycz, Karolina Orchel-Szastak, Kinga Bik-Multanowska, Ewa Starostecka, Joanna Jaglowska, Renata Mozrzymas, Joanna Zolkowska, Katarzyna Chyz, Dorota Korycinska-Chaaban (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

Surface plasmon resonance analysis of complex formation of therapeutic recombinant lysosomal enzymes with domain 9 of human cation-independent mannose 6-phosphate receptor
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Minori Kanzaki, Takahiro Tsukimura, Yasunori Chiba, Hitoshi Sakuraba, Tadayasu Togawa (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 22, 2020 Category: Genetics & Stem Cells Source Type: research

Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): C.A. González-Domínguez, A. Raya-Trigueros, S. Manrique-Hernández, A. González Jaimes, R. Salinas-Marín, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, C. Dehesa-Caballero, C. Alaez-Versón, I. Martínez-Duncker (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 20, 2020 Category: Genetics & Stem Cells Source Type: research

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Yuval E. Landau, Gali Heimer, Ortal Barel, Nechama Shalva, Dina Marek-Yagel, Alvit Veber, Elisheva Javasky, Aya Shilon, Andreea Nissenkorn, Bruria Ben-Zeev, Yair Anikster (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 15, 2020 Category: Genetics & Stem Cells Source Type: research

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Alanna Strong, Kierstin Keller, Jamie Merves (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 15, 2020 Category: Genetics & Stem Cells Source Type: research

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): A. Maguolo, G. Rodella, A. Dianin, R. Nurti, I. Monge, E. Rigotti, G. Cantalupo, L. Salviati, S. Tucci, F. Pellegrini, G. Molinaro, F. Lupi, P. Tonin, A. Pasini, N. Campostrini, F. Ion Popa, F. Teofoli, M. Vincenzi, M. Camilot, G. Piacentini (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 13, 2020 Category: Genetics & Stem Cells Source Type: research

Behavioral, social and school functioning in children with Pompe disease
Publication date: December 2020Source: Molecular Genetics and Metabolism Reports, Volume 25Author(s): Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 13, 2020 Category: Genetics & Stem Cells Source Type: research

False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Ryosuke Bo, Hiroyuki Awano, Kosuke Nishida, Kazumichi Fujioka, Atsushi Nishiyama, Osamu Miyake, Kazumoto Iijima (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 4, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Aileen Kenneson, Lauren Youngborg, Rani H. Singh (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 1, 2020 Category: Genetics & Stem Cells Source Type: research

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Joo-Hyun Seo, Torayuki Okuyama, Elsa Shapiro, Yasuyuki Fukuhara, Motomichi Kosuga (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 30, 2020 Category: Genetics & Stem Cells Source Type: research

RANBP2 susceptibility to infection-induced encephalopathy: Clinicoradiologic and molecular description in a Malaysian family
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): H.B. Chew, L.H. Ngu (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 28, 2020 Category: Genetics & Stem Cells Source Type: research

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 23, 2020 Category: Genetics & Stem Cells Source Type: research

Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Ana Maria Martins, Andre Luiz Santos Pessoa, Andrea Amaro Quesada, Erlane Marques Ribeiro (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 23, 2020 Category: Genetics & Stem Cells Source Type: research

Targeted next generation sequencing for newborn screening of Menkes disease
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Richard B. Parad, Stephen G. Kaler, Evan Mauceli, Tanya Sokolsky, Ling Yi, Arindam Bhattacharjee (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 22, 2020 Category: Genetics & Stem Cells Source Type: research

Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Tatiana Marusic, Mojca Zerjav Tansek, Andreja Sirca Campa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Groselj (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 17, 2020 Category: Genetics & Stem Cells Source Type: research

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Kenichi Hongo, Toru Harada, Eiko Fukuro, Masahisa Kobayashi, Toya Ohashi, Yoshikatsu Eto (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 17, 2020 Category: Genetics & Stem Cells Source Type: research

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Beth L. Thurberg (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 17, 2020 Category: Genetics & Stem Cells Source Type: research

Cystinosis: Therapy adherence and metabolic monitoring in patients treated with immediate-release cysteamine
Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H. Park, Thorsten Marquardt (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 14, 2020 Category: Genetics & Stem Cells Source Type: research

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 4, 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 20, 2020 Category: Genetics & Stem Cells Source Type: research