SUBJECTS : Molecular Genetics | Endocrinolog
Molecular Genetics and Metabolism Reports: 2023, vol: 37, issue:
- 1)- Amber Van Baelen, Laurence Roosens, Sylvie Devos, Stijn Verhulst, François Eyskens. A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry. Molecular genetics and metabolism reports. 2023, 37: 100993
Cited : 0Read More - 2)- Rafael Adrián Pacheco Orozco, Alejandro Padilla-Guzmán, Jessica María Forero-Delgadillo, Vanessa Amparo Ochoa Jiménez, Harry Pachajoa, Nancy Janeth Vargas Parra, Jaime M Restrepo. Schimke immuno-osseous dysplasia. A case report in Colombia. Molecular genetics and metabolism reports. 2023, 37: 100995Cited : 0Read More
- 3)- Raffaella Mistrulli, Caterina Micolonghi, Federico Follesa, Marco Fabiani, Erika Pagannone, Giulia D'Amati, Carla Giordano, Silvia Caroselli, Camilla Savio, Aldo Germani, Antonio Pizzuti, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane, Camillo Autore. The role of genetic testing in suspected fulminant myocarditis: A case report. Molecular genetics and metabolism reports. 2023, 37: 101000Cited : 0Read More
- 4)- Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S Cubit, Judith S Miller, V Reid Sutton, Dwight Koeberl, Forbes D Porter. Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency. Molecular genetics and metabolism reports. 2023, 37: 101001Cited : 0Read More
- 5)- Jariya Upadia, Grace Noh, John J Lefante, Hans C Andersson. Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience. Molecular genetics and metabolism reports. 2023, 37: 101002Cited : 1Read More
- 6)- Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura. Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan. Molecular genetics and metabolism reports. 2023, 37: 101003Cited : 0Read More
- 7)- Gurnoor Lail, Susan Blaser, Michal Inbar-Feigenberg. An unusually mild case of biotin-thiamine-responsive basal ganglia disease. Molecular genetics and metabolism reports. 2023, 37: 101004Cited : 0Read More
- 8)- Heather Lau, Paul Harmatz, Jaco Botha, Jennifer Audi, Bianca Link. Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. Molecular genetics and metabolism reports. 2023, 37: 101005Cited : 0Read More
- 9)- Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, . variants in Brazilian Gaucher disease patients. Molecular genetics and metabolism reports. 2023, 37: 101006Cited : 2Read More
- 10)- Adhuresa Ramosaj, Palak Singhal, André Schaller, Alexander Laemmle. Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports. 2023, 37: 101007Cited : 0Read More
- 11)- Edoardo Fino, Alessandro Barbato, Giusi M Scaturro, Elena Procopio, Simona Balestrini. DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings. Molecular genetics and metabolism reports. 2023, 37: 101008Cited : 0Read More
- 12)- Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J Church, Karen L Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A M Morris, Simon A Jones, Karolina M Stepien. Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations. Molecular genetics and metabolism reports. 2023, 37: 101009Cited : 0Read More
- 13)- Martina Bon, Andrea Dardis, Maurizio Scarpa, Annalisa Sechi. Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease. Molecular genetics and metabolism reports. 2023, 37: 101010Cited : 0Read More
- 14)- Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev. Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models. Molecular genetics and metabolism reports. 2023, 37: 101011Cited : 0Read More
- 15)- Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman, Hans-Juergen Woerle, Christian J Hendriksz. Pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral dose of an engineered phenylalanine ammonia-lyase in patients with phenylketonuria. Molecular genetics and metabolism reports. 2023, 37: 101012Cited : 1Read More
- 16)- Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S Cubit, Judith S Miller, V Reid Sutton, Dwight Koeberl, Forbes D Porter. Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency". Molecular genetics and metabolism reports. 2023, 37: 101013Cited : 1Read More
- 17)- Mariah C Lopshire, Cynthia Tifft, John Burns, Rebecca Gould, Riliang Zheng, Isabela Batsu. The diagnostic journey for patients with late-onset GM2 Gangliosidoses. Molecular genetics and metabolism reports. 2023, 37: 101014Cited : 0Read More
- 18)- Krista Viau, Leslie Martell, Ann Wessel, Fran Rohr, Suzanne Hollander, Melissa S Putman, Stephanie Sacharow. Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study. Molecular genetics and metabolism reports. 2023, 37: 101015Cited : 1Read More
- 19)- Eriko Aoki, Noriyoshi Manabe, Shiho Ohno, Taiga Aoki, Jun-Ichi Furukawa, Akira Togayachi, Kiyoko Aoki-Kinoshita, Jin-Ichi Inokuchi, Kenji Kurosawa, Tadashi Kaname, Yoshiki Yamaguchi, Shoko Nishihara. Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL. Molecular genetics and metabolism reports. 2023, 37: 101016Cited : 0Read More
- 20)- Yuki Miyamoto, Kohei Hattori, Junji Yamauchi. Defective oligodendrocyte differentiation by hypomyelinating leukodystrophy 13 (HLD13)-associated mutation of Hikeshi. Molecular genetics and metabolism reports. 2023, 37: 101017Cited : 0Read More
- 21)- Antoine Poli, Camilla Frieri, Thibaud Lefebvre, Juliette Delforge, Arienne Mirmiran, Neila Talbi, Boualem Moulouel, Marion Six, Valérie Paradis, Nathalie Parquet, Hervé Puy, Caroline Schmitt, Elisabeth Aslangul, Flore Sicre de Fontbrune, Laurent Gouya. Management of erythropoietic protoporphyria with cholestatic liver disease: A case report. Molecular genetics and metabolism reports. 2023, 37: 101018Cited : 2Read More
- 22)- Kaoru Eto, Rina Itagaki, Ayumi Takamura, Yoshikatsu Eto, Satoru Nagata. Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. Molecular genetics and metabolism reports. 2023, 37: 101019Cited : 0Read More
- 23)- Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A M Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen. Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study. Molecular genetics and metabolism reports. 2023, 37: 101020Cited : 1Read More
- 24)- Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II. Molecular genetics and metabolism reports. 2023, 37: 101021Cited : 0Read More
- 25)- Irem Kalay, Hüseyin Aykut, Zuhal Caliskan, Gökhan Yigit, Bernd Wollnik. Lysinuric protein intolerance caused by a homozygous deletion and presented with hyperferritinemia and osteoporosis in two siblings. Molecular genetics and metabolism reports. 2023, 37: 101022Cited : 0Read More
