Search Results - "Journal of Inborn Errors of Metabolism and Screening"

Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis” by Steiner, Carlos Eduardo, Bonadia, Luciana Cardoso

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Obituary: Toshiyuki Fukao (1961-2020), a friend of the Latin American IEM community by Ida, Hiroyuki

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The Role of Hyperhomocysteinemia in Disease by Vargas, Carmen R., Sitta, Angela, Wajner, Moacir

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Are NO Precursors Truly Effective in MELAS? by Finsterer, Josef, Zarrouk-Mahjoub, Sinda

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JIEMS Special Issue Dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September 5-8, 2017) by Giugliani, Roberto

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Advances in Mitochondrial Medicine by Enns, Gregory M. Enns

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Editorial Letter to Special Issue on Phenylketonuria by Cornejo, Verónica

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Editorial Letter to Special Issue Fabry Disease by Politei, Juan

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New Aspects of LSD: Pathophysiology, Diagnosis, and Treatment by Beck, Michael

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The Role of Technology in the Neonatal Screening Laboratory by Jesús, Víctor R. De

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Medium Chain Acyl CoA Dehydrogenase Deficiency and Eating Disorders: An Underreported Coincidence by Burns, Kharis A., Manolikos, Catherine, Hodge, Samantha, Bell, Damon A.

“…Abstract Medium chain acyl-coA dehydrogenase deficiency (MCADD), the most common fatty acid oxidation disorder, has been regarded as a relatively benign…”
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A Case Series of Disproportionate Elevations of Cardiac Troponin and Macrotroponin in Fabry Disease by Moussa, Yvonne, Suthaharen, Cankayan, Devine, Kerry, Tchan, Michel, Kozor, Rebecca, Rahman, Yusof

“…Abstract Fabry disease is a rare X-linked lysosomal storage disorder that causes progressive cellular accumulation of glycosphingolipids, leading to various…”
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Considerations for Familial Chylomicronemia Diagnosis in the Era of Next-Generation Sequencing: A Latin American Perspective by Lourenco, Charles Marques, Corral, Pablo, Santos, Raul D., Nogueira, Juan Patricio, Mendivil, Carlos O., Santos, José L., Pachajoa, Harry, Bañares, Virginia, Mattos-Velez, Maria Belen

“…Abstract Familial chylomicronemia syndrome (FCS) is an autosomal recessive disorder, characterized by alterations in the catabolism of chylomicrons and by…”
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Long-Term Cardiorespiratory, Endocrine, Ophthalmic, and Functional Outcomes in Adult Patients with Mucopolysaccharidosis Type I (Hurler Syndrome) Post Haematopoietic Stem Cell Transplantation: The Irish Experience by Stepien, Karolina M., Treacy, Max, Katiri, Roulla, Treacy, Eileen P., Pastores, Gregory, Sheerin, Alison, Brosnahan, Donal, Crushell, Ellen, O’Byrne, James J.

“…Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase…”
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Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis” by Steiner, Carlos Eduardo, Bonadia, Luciana Cardoso

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Algorithm for Investigation of Fabry Disease in Cardiomyopathies by Silva, Sandra Marques e, Chaves, Ândrea V. F., Antunes, Murillo O., Roque, Natalia R., Montenegro, Eduarda M. S., Malbouisson, Isabelle, Paula, Maurício A. de, Correia, Edileide B.

“…Abstract Fabry disease (FD) is a rare, x-linked lysosomal storage disease caused by mutations in the GLA gene that leads to total or partial alfa galactosidase…”
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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study by Nalin, Tatiéle, Sperb-Ludwig, Fernanda, Siebert, Marina, Rizowy, Gustavo Mottin, Weinstein, David A., Derks, Terry G. J., Souza, Carolina F. M. de, Schwartz, Ida V. D.

“…Abstract Hepatic glycogen storage diseases (GSD) are characterized by recurrent episodes of hypoglycemia, and anemia has been recognized as a frequent…”
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Biological Reference Interval of Amino Acids in the Dried Blood Spot of Term Neonates of South Karnataka Measured by High Performance Liquid Chromatography by Asok, Arjun, Suryakanth, Varashree Bolar, Lewis, Leslie Edward Simon, Warrier, Prasanth C.B.

“…Abstract Introduction: The advent of newborn screening across India has led to an increase in the early diagnosis of inborn errors of metabolisms (IEMs)…”
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Diet therapy and metabolic control among Chilean adults with a neonatal diagnosis of Phenylketonuria by Peñaloza, F., Rojas-Agurto, E., Salazar, F., Hamilton, V., Peredo, P., Cabello, J. F., Arias, C., Crespo, M. G., Cornejo, V., Leal-Witt, M. J.

“…Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and…”
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The Link Between Hyperhomocysteinemia and Hypomethylation: Implications for Cardiovascular Disease by Barroso, Madalena, Handy, Diane E., Castro, Rita

“…Increased levels of homocysteine have been established as a risk factor for cardiovascular disease (CVD) by mechanisms still incompletely defined…”
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