Recent advances in the pathophysiology of inherited metabolic diseases
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10007
Abstract: Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in different types of proteins, including enzymes, structural proteins or transporters. The blockage of a metabolic pathway leads to an… read more here.
Keywords: metabolic diseases; advances pathophysiology; inherited metabolic; pathophysiology inherited ... See more keywords
Choline‐related‐inherited metabolic diseases—A mini review
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12011
Abstract: In humans, the important water soluble, vitamin‐like nutrient choline, is taken up with the diet or recycled in the liver. Deficiencies of choline have only been reported in experimental situations or total parenteral nutrition. Currently,… read more here.
Keywords: mini review; choline; metabolic diseases; choline related ... See more keywords
An international classification of inherited metabolic disorders (ICIMD)
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12348
Abstract: Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others on clinical manifestations, while yet another attempted a simplified approach of a comprehensive nosology. Some of… read more here.
Keywords: disorders icimd; classification; inherited metabolic; classification inherited ... See more keywords
100 years of inherited metabolic disorders in Austria - a national registry of minimal birth prevalence, diagnosis and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12442
Abstract: Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network within… read more here.
Keywords: metabolism; prevalence; minimal birth; inherited metabolic ... See more keywords
Long‐term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12563
Abstract: Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favorable development and long‐term… read more here.
Keywords: long term; development; sds; metabolic diseases ... See more keywords
Transplantation as disease modifying therapy in adults with inherited metabolic disorders
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0141-z
Abstract: Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address… read more here.
Keywords: disease modifying; disease; inherited metabolic; transplantation ... See more keywords
[Acute liver failure related to inherited metabolic diseases in young children].
Sign Up to like & getrecommendations! Published in 2018 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2017.02.012
Abstract: INTRODUCTION Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE To describe clinical presentation, investigation and outcomes of… read more here.
Keywords: liver failure; metabolic diseases; acute liver; inherited metabolic ... See more keywords
Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.10.014
Abstract: The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these… read more here.
Keywords: adults view; disorders adults; inherited metabolic; metabolic disorders ... See more keywords
Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.04.002
Abstract: Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, acute liver failure, cirrhosis or cholestasis. Specifically for pediatric acute liver failure, they account for 10-15% of cases, with a mortality of… read more here.
Keywords: liver failure; metabolic diseases; acute liver; metabolic liver ... See more keywords
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2022.02.001
Abstract: OBJECTIVES Reye Syndrome is an acute encephalopathy with increased liver enzymes and blood ammonia, without jaundice. The prevalence of an underlying inherited metabolic disorder (IMD) is unclear, nor the clinical or biological factors directing toward… read more here.
Keywords: study children; metabolic disorder; imd; inherited metabolic ... See more keywords
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100812
Abstract: Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort… read more here.
Keywords: cohort 547; exome sequencing; developmental disorders; inherited metabolic ... See more keywords