Showing 1 - 20 results of 597 for search '"Molecular Genetics and Metabolism Reports"', query time: 0.17s Refine Results
  1. 1
    Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

    Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism by Florin Bösch, Markus A. Landolt, Matthias R. Baumgartner, Susana Fernandez, Patrick Forny, Matthias Gautschi, Sarah C. Grünert, Johannes Häberle, Carolina Horvath, Daniela Karall, Danila Lampis, Marianne Rohrbach, Sabine Scholl-Bürgi, Gabor Szinnai, Martina Huemer

    Published 2022-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  2. 2
    Stormorken syndrome or York platelet syndrome: A clinician's dilemma

    Stormorken syndrome or York platelet syndrome: A clinician's dilemma by Amrathlal Rabbind Singh, Gilles Morin, Jacques Rochette

    Published 2015-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  3. 3
    Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

    Transient neonatal renal failure and massive polyuria in MEGDEL syndrome by Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff

    Published 2016-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  4. 4
    Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA

    Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA by Kleopatra Pericleous, Chantelle McIntyre, Maria Fuller

    Published 2023-09-01
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  5. 5
    Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders

    Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders by Mitsuyoshi Suzuki, Hajime Takei, Hiromi Suzuki, Jun Mori, Satoru Sugimoto, Tatsuki Mizuochi, Akira Ohtake, Hisamitsu Hayashi, Akihiko Kimura, Hiroshi Nittono

    Published 2024-12-01
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  6. 6
    Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I

    Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I by Sarah C. Hurt, Moin U. Vera, Steven Q. Le, Shih-hsin Kan, Quang Bui, Patricia I. Dickson

    Published 2024-03-01
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  7. 7
    Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia

    Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia by ZaenalAdi Susanto, Wahyu Siswandari, Lantip Rujito

    Published 2020-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  8. 8
    Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families

    Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families by Yu Sui, Yongping Lu, Meina Lin, Xinren Chen, Xiang Ni, Huan Li, Miao Jiang

    Published 2024-12-01
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  9. 9
    Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

    Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease by Grant Bonesteele, J. Jay Gargus, Emily Curtin, Mabel Tang, Barry Rosenbloom, Virginia Kimonis

    Published 2020-12-01
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  10. 10
    Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

    Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression by Nevenka Ridova, Sanja Trajkova, Biljana Chonevska, Zlate Stojanoski, Martin Ivanovski, Marija Popova-Labachevska, Simona Stojanovska-Jakimovska, Venko Filipche, Aspazija Sofijanova, Irina Panovska-Stavridis

    Published 2022-09-01
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  11. 11
    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients

    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients by Zuhair N. Al-Hassnan, Ola A. Khalifa, Dalal K. Bubshait, Sahar Tulbah, Maarab Alkorashy, Hamad Alzaidan, Mohammed Alowain, Zuhair Rahbeeni, Moeen Al-Sayed

    Published 2018-06-01
    “…Molecular Genetics and Metabolism Reports…”
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  12. 12
    Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

    Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy by Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien

    Published 2020-12-01
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  13. 13
    Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

    Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio by H.A. Haijes, Hubertus C.M.T. Prinsen, Monique G.M. de Sain-van der Velden, Nanda M. Verhoeven-Duif, Peter M. van Hasselt, Judith J.M. Jans

    Published 2020-03-01
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  14. 14
    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

    Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening by Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff

    Published 2022-12-01
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  15. 15
    Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency

    Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency by Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama

    Published 2020-09-01
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  16. 16
    Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)

    Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome) by Juyoung Sung, Insung Kim, Minji Im, Yoon Ji Ahn, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Tae Yeon Jeon, Kyung Rae Ko, Se-Jun Park, Jun Hwa Lee, Eun Young Kim, Chong Kun Cheon, Eungu Kang, Jung-eun Moon, Young Bae Sohn, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Sung Yoon Cho

    Published 2025-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  17. 17
    Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

    Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy by 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

    Published 2023-09-01
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  18. 18
    Camptocormia as a feature of Mc Ardle's disease: A case report

    Camptocormia as a feature of Mc Ardle's disease: A case report by Mathilde Nicolas, Chloé Giret, Sybille Pellieux, Annick Toutain, Anne-Marie Bergemer-Fouquet, Pascal Laforêt, Loic Bouilleau, François Maillot

    Published 2025-03-01
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  19. 19
    Corrigendum to “Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II” [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]

    Corrigendum to “Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II” [Molecular Genetics and Metabolism Reports Vol. 37,... by Narutoshi Yamazaki, Mari Ohira, Shuji Takada, Akira Ohtake, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima

    Published 2024-12-01
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  20. 20
    Long-term outcome of patients with alpha-mannosidosis – A single center study

    Long-term outcome of patients with alpha-mannosidosis – A single center study by Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Katarzyna Iwanicka-Pronicka, Barbara Perkowska, Paulina Pokora, Anna Tylki-Szymańska

    Published 2022-03-01
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