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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