SUBJECTS : Molecular Genetics | Endocrinolog
Molecular Genetics and Metabolism Reports: 2023, vol: 36, issue:
- 1)- Katherine H Kim, Ankit K Desai, Erika R Vucko, Tracy Boggs, Priya S Kishnani, Barbara K Burton. Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy. Molecular genetics and metabolism reports. 2023, 36: 100981
Cited : 3Read More - 2)- Kleopatra Pericleous, Chantelle McIntyre, Maria Fuller. Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA. Molecular genetics and metabolism reports. 2023, 36: 100985Cited : 0Read More
- 3)- Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review. Molecular genetics and metabolism reports. 2023, 36: 100986Cited : 1Read More
- 4)- Adriana M Montaño, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Antonio Nino Ramirez, Lin Zhang, Deborah Marsden, Raymond Y Wang, Paul Harmatz. Growth patterns in patients with mucopolysaccharidosis VII. Molecular genetics and metabolism reports. 2023, 36: 100987Cited : 0Read More
- 5)- Reena Sharma, Caroline Hastings, Orna Staretz-Chacham, Julian Raiman, Martin Paucar, Ronen Spiegel, Bryan Murray, Bryan Hurst, Benny Liu, Lise Kjems, Sharon Hrynkow. Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial. Molecular genetics and metabolism reports. 2023, 36: 100988Cited : 2Read More
- 6)- David G Jackson, Laura E Case, Erin Huggins, Maggie Holland, Janet Blount, Lisa Hobson Webb, Priya S Kishnani. Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening. Molecular genetics and metabolism reports. 2023, 36: 100989Cited : 0Read More
- 7)- Jason R McFadden, Christina Deanne P Tolete, Yan Huang, Ellen Macnamara, David Sept, Galina Nesterova, William A Gahl, Dan L Sackett, May Christine V Malicdan. Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy. Molecular genetics and metabolism reports. 2023, 36: 100990Cited : 2Read More
- 8)- Mei-Yan Chan, Andrew Jack Nelson, Lock-Hock Ngu. Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series. Molecular genetics and metabolism reports. 2023, 36: 100991Cited : 1Read More
- 9)- Dariusz Walkowiak, Jan Domaradzki, Renata Mozrzymas, Dorota Korycińska-Chaaban, Monika Duś-Żuchowska, Bożena Didycz, Bożena Mikołuć, Jarosław Walkowiak. Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria. Molecular genetics and metabolism reports. 2023, 36: 100992Cited : 2Read More
- 10)- Yuta Koto, Aya Narita, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara, Norio Sakai. Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study. Molecular genetics and metabolism reports. 2023, 36: 100994Cited : 1Read More
- 11)- Steven F Dobrowolski, Irina L Tourkova, Quitterie C Larrouture, Harry C Blair. Creatine energy substrate increases bone density in the Pah classical PKU mouse in the context of phenylalanine restriction. Molecular genetics and metabolism reports. 2023, 36: 100996Cited : 0Read More
- 12)- Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H Jacobs, George J G Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou, Anthi Drousiotou, Olga Grafakou, Petros P Petrou. variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing. Molecular genetics and metabolism reports. 2023, 36: 100997Cited : 0Read More
- 13)- Valentina Rovelli, Vittoria Ercoli, Alice Re Dionigi, Sabrina Paci, Elisabetta Salvatici, Juri Zuvadelli, Giuseppe Banderali. Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis. Molecular genetics and metabolism reports. 2023, 36: 100998Cited : 0Read More
- 14)- Kimberly A Chapman, Danae Bartke, Vanessa Vogel-Farley, Mary Cobb, Mary Chapman. Dental complications in homocystinurias. Molecular genetics and metabolism reports. 2023, 36: 100999Cited : 0Read More
