Mental Health Across the Metabolic Spectrum by Vrinda Saxena, Isaac Marin-Valencia

Subjects: “…Inborn errors of metabolism…”
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Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary cen... by Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed

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Inherited metabolic disorders… …do not miss treatable diseases… by Maria Giżewska

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Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C ty... by Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou

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Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

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Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma by Lorna Hirst, Gehan Abou-Ameira, Mari-Liis Uudelepp

“…Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. …”
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Multiclinic Observations on the Simplified Diet in PKU by Laurie Bernstein, Casey Burns, Melissa Sailer-Hammons, Angela Kurtz, Frances Rohr

“…Phenylketonuria is an inborn error of metabolism that historically has been treated with a strict phenylalanine-restricted diet where all foods are weighed and measured. …”
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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach by Swati Chaturvedi, Ashok K. Singh, Amit K. Keshari, Siddhartha Maity, Srimanta Sarkar, Sudipta Saha

“…However, it has been manifested that MED could be either inherited as inborn error of metabolism (IEM) or acquired, which carries a high risk of interrupted biochemical reactions. …”
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Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study by Noor A. Megdadi, Ahmad K. Almigdad, Mo’men O. Alakil, Shahrazad M. Alqiam, Sumaia G. Rababah, Moshera A. Dwiari

“…Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. …”
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Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease by Shao Ching Tu, Marium Khan, Katie Wolfe, Sakil S. Kulkarni, Elizabeth Toolan, Dorothy K. Grange

“…Abstract Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched‐chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched‐chain alpha‐keto acid dehydrogenase complex. …”
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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum by Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins

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2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents by Małgorzata Myśliwiec, Marta Bandura, Anna Wołoszyn-Durkiewicz, Matylda Hennig, Mieczysław Walczak, Jarosław Peregut-Pogorzelski, Jolanta Sykut-Cegielska, Maria Miszczak-Knecht, Krzysztof Chlebus, Bartosz Wasąg, Agnieszka Zmysłowska, Maciej Banach

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Gastrointestinal complications of hepatic glycogen storage disease: a national survey questionnaire study in China by Xiaoyan Zhang, Zexiong Su, Jiaxing Wu, Hanshi Zeng, Xun Jiang, Ying Wang, Huiqing Shen, Xiaoli Xie, Yuan Xiao, Qing Tang, Xiaoping Luo, Xuemei Zhong, Huan Chen, Jiaoli Lan, Yongxin Chen, Xiaolu Zeng, Huiqiong Zhang, Zhiling Li, Yuxin Zhang, Min Yang

“…Abstract Background Hepatic glycogen storage diseases (GSD) are inborn errors of metabolism with abnormal storage or utilization of glycogen, a complex disease with significant genetic heterogeneity and similar clinical manifestations. …”
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