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578 results for Metabolism,+Inborn+Errors+-+complications

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Select record 21
ArticlesPeer ReviewedFull Text
CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations
Author / Creator:Hawkes, Colin Patrick ; Li, Dong ; Hakonarson, Hakon ; Meyers, Kevin E. ; Thummel, Kenneth E. ; Levine, Michael A.
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2017-05, Vol.102 (5), p.1440-1446
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Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
Author / Creator:Sharma, Suvasini ; Prasad, Asuri
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2017-07, Vol.18 (7), p.1384
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Diagnosis and management of glutaric aciduria type I – revised recommendations
Author / Creator:Kölker, Stefan ; Christensen, Ernst ; Leonard, James V. ; Greenberg, Cheryl R. ; Boneh, Avihu ; Burlina, Alberto B. ; Burlina, Alessandro P. ; Dixon, Marjorie ; Duran, Marinus ; García Cazorla, Angels ; Goodman, Stephen I. ; Koeller, David M. ; Kyllerman, Mårten ; Mühlhausen, Chris ; Müller, Edith ; Okun, Jürgen G. ; Wilcken, Bridget ; Hoffmann, Georg F. ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694
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Observational study of birth outcomes in children with inborn errors of metabolism
Author / Creator:Auger, Nathalie ; Bilodeau-Bertrand, Marianne ; Brousseau, Émilie ; Nelson, Chantal ; Arbour, Laura
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2022-10, Vol.92 (4), p.1181-1187
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Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age
Author / Creator:Du, Mengmeng ; Wu, Shengnan ; Chen, Yongxing ; Yuan, Shuxian ; Dong, Shijie ; Wang, Huizhen ; Wei, Haiyan ; Zhu, Changlian
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-10, Vol.14 (1), p.23992-11, Article 23992
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Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy
Author / Creator:Bayat, Michael ; Beniczky, Sándor ; Thomsen, Jan Lykke Scheel
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2024-05, Vol.45 (5), p.2387-2391
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Author / Creator:Märtner, E. M. Charlotte ; Thimm, Eva ; Guder, Philipp ; Schiergens, Katharina A. ; Rutsch, Frank ; Roloff, Sylvia ; Marquardt, Iris ; Das, Anibh M. ; Freisinger, Peter ; Grünert, Sarah C. ; Krämer, Johannes ; Baumgartner, Matthias R. ; Beblo, Skadi ; Haase, Claudia ; Dieckmann, Andrea ; Lindner, Martin ; Näke, Andrea ; Hoffmann, Georg F. ; Mühlhausen, Chris ; Walter, Magdalena ; Garbade, Sven F. ; Maier, Esther M. ; Kölker, Stefan ; Boy, Nikolas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.19300-19300, Article 19300
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Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
Author / Creator:Mütze, Ulrike ; Nennstiel, Uta ; Odenwald, Birgit ; Haase, Claudia ; Ceglarek, Uta ; Janzen, Nils ; Garbade, Sven F. ; Hoffmann, Georg F. ; Kölker, Stefan ; Haas, Dorothea
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2022-06, Vol.181 (6), p.2415-2422
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Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes
Author / Creator:Paessler, Alicia ; Cortes-Cerisuelo, Miriam ; Jassem, Wayel ; Vilca-Melendez, Hector ; Deep, Akash ; Jain, Vandana ; Pool, Andrew ; Grunewald, Stephanie ; Kessaris, Nicos ; Stojanovic, Jelena
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2023-08, Vol.38 (8), p.2887-2896
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Select record 30
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Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Author / Creator:Frishberg, Yaacov ; Zeharia, Avraham ; Lyakhovetsky, Roman ; Bargal, Ruth ; Belostotsky, Ruth
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-08, Vol.51 (8), p.526-529
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Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Author / Creator:Muntau, Ania C. ; Leandro, João ; Staudigl, Michael ; Mayer, Felix ; Gersting, Søren W.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.505-523
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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
Author / Creator:Knottnerus, Suzan J. G. ; Mengarelli, Isabella ; Wüst, Rob C. I. ; Baartscheer, Antonius ; Bleeker, Jeannette C. ; Coronel, Ruben ; Ferdinandusse, Sacha ; Guan, Kaomei ; IJlst, Lodewijk ; Li, Wener ; Luo, Xiaojing ; Portero, Vincent M. ; Ulbricht, Ying ; Visser, Gepke ; Wanders, Ronald J. A. ; Wijburg, Frits A. ; Verkerk, Arie O. ; Houtkooper, Riekelt H. ; Bezzina, Connie R.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-04, Vol.21 (7), p.2589
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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...
Author / Creator:Gustafson, Margaret A. ; McCormick, Elizabeth M. ; Perera, Lalith ; Longley, Matthew J. ; Bai, Renkui ; Kong, Jianping ; Dulik, Matthew ; Shen, Lishuang ; Goldstein, Amy C. ; McCormack, Shana E. ; Laskin, Benjamin L. ; Leroy, Bart P. ; Ortiz-Gonzalez, Xilma R. ; Ellington, Meredith G. ; Copeland, William C. ; Falk, Marni J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-09, Vol.14 (9), p.e0221829
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Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders
Author / Creator:Eminoğlu, Fatma Tuba ; Öncül, Ümmühan ; Kahveci, Fevzi ; Okulu, Emel ; Kraja, Elvis ; Köse, Engin ; Kendirli, Tanıl
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2022-06, Vol.37 (6), p.1387-1397
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Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
Author / Creator:Loret, Amaury ; Jacob, Claire ; Mammou, Saloua ; Bigot, Adrien ; Blasco, Hélène ; Audemard-Verger, Alexandra ; Schwartz, Ida VD ; Mulleman, Denis ; Maillot, François
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.239-239, Article 239
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Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature
Author / Creator:Yamashita, Fumiya ; Akamine, Satoshi ; Chong, Pin Fee ; Maeda, Kenichi ; Kawakami, Saori ; Lee, Sooyoung ; Ishimura, Masataka ; Murayama, Kei ; Sakai, Yasunari ; Kira, Ryutaro
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2025-03, Vol.25 (1), p.259-7, Article 259
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Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children
Author / Creator:Galindo-Zavala, Rocío ; Bou-Torrent, Rosa ; Magallares-López, Berta ; Mir-Perelló, Concepción ; Palmou-Fontana, Natalia ; Sevilla-Pérez, Belén ; Medrano-San Ildefonso, Marta ; González-Fernández, Mª. Isabel ; Román-Pascual, Almudena ; Alcañiz-Rodríguez, Paula ; Nieto-Gonzalez, Juan Carlos ; López-Corbeto, Mireia ; Graña-Gil, Jenaro
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2020-02, Vol.18 (1), p.20-14, Article 20
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Select record 38
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Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
Author / Creator:Finezilber, Yael ; Massey, Charlotte ; Radley, Jessica A ; Murphy, Elaine
Publisher:England: BMJ Publishing Group Ltd
Journal title:Practical neurology, 2024-10, Vol.24 (5), p.413-416
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Chronic Diseases, Chromosomal Abnormalities, and Congenital Malformations as Risk Factors for Respiratory Syncytial Virus Hospitalization: A Population-Based Cohort Study
Author / Creator:Kristensen, Kim ; Hjuler, Thomas ; Ravn, Henrik ; Simões, Eric A. F. ; Stensballe, Lone G.
Publisher:Oxford: Oxford University Press
Journal title:Clinical infectious diseases, 2012-03, Vol.54 (6), p.810-817
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Select record 40
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Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report
Author / Creator:Cheng, Yuxuan ; Zhang, Aijun
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2025-02, Vol.25 (1), p.107-7
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Showing 21 to 40 of 578 results

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CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations

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Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

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Diagnosis and management of glutaric aciduria type I – revised recommendations

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Observational study of birth outcomes in children with inborn errors of metabolism

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Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age

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Very late onset methylmalonic acidemia (cblB type) as a cause of status epilepticus, leukoencephalopathy and myelopathy

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

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Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening

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Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomes

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Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria

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Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates

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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh synd...

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Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders

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Joint manifestations revealing inborn metabolic diseases in adults: a narrative review

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Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature

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Expert panel consensus recommendations for diagnosis and treatment of secondary osteoporosis in children

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Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy

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Chronic Diseases, Chromosomal Abnormalities, and Congenital Malformations as Risk Factors for Respiratory Syncytial Virus Hospitalization: A Population-Based Cohort Study

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Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report

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