Molecular Genetics and Metabolism Reports This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

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