5,173 results match your criteria Metabolic Myopathies


Magnesium lithospermate B supplementation improved prenatal Bisphenol A exposure-induced metabolic abnormalities in male offspring.

Environ Toxicol 2021 Jun 24. Epub 2021 Jun 24.

Department of Veterinary Medicine, National Chung Hsing University, Taichung, Taiwan.

Obesity is closely linked with metabolic diseases, while life and prenatal exposure to endocrine-disrupting chemicals has been implicated in the development of obesity. Magnesium lithospermate B (MLB), an active compound of Salvia miltiorrhiza (Danshen), has beneficial effects on insulin resistance and metabolic abnormalities in diet-induced obese rodents. Since exposure to endocrine-disrupting chemical Bisphenol A (BPA) during pregnancy mimics the effects of high fat diet-induced alterations of glucose and lipid metabolism in adult male offspring, the effects of daily MLB supplementation for 4 weeks on metabolic abnormalities in rats weaning from prenatal BPA-exposed dams were investigated. Read More

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Signaling pathways regulating the fate of fibro/adipogenic progenitors (FAPs) in skeletal muscle regeneration and disease.

FEBS J 2021 Jun 18. Epub 2021 Jun 18.

Department of Biology, University of Rome "Tor Vergata", 00133, Rome, Italy.

The characterization of fibro/adipogenic progenitor cells (FAPs) in the skeletal muscle has contributed to modify the monocentric view of muscle regeneration beyond muscle satellite cells (MuSCs). Now, we are aware that each population of the muscle niche plays a critical role in modulating homeostasis and regeneration. In the healthy muscle, FAPs contribute to maintain tissue homeostasis and assist MuSCs to cope with limited insults. Read More

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Effects of Icelandic yogurt consumption and resistance training in healthy untrained older males.

Br J Nutr 2021 Jun 14:1-26. Epub 2021 Jun 14.

Department of Exercise Physiology, Ferdowsi University of Mashhad, Mashhad, Iran.

Due to the important roles of resistance training and protein consumption in the prevention and treatment of sarcopenia, we assessed the efficacy of post-exercise Icelandic yogurt consumption on lean mass, strength, and skeletal muscle regulatory factors in healthy untrained older males. Thirty healthy untrained older males (age = 68 ± 4 yr) were randomly assigned to Icelandic yogurt (IR; n =15, 18 g of protein) or an iso-energetic placebo (PR; n =15, 0 g protein) immediately following resistance training (3x/week) for eight weeks. Before and after training, lean mass, strength, and skeletal muscle regulatory factors (insulin-like growth factor-1 [IGF-1], transforming growth factor-beta 1 [TGF-β1], growth differentiation factor 15 [GDF15], Activin A, myostatin [MST], and follistatin [FST]) were assessed. Read More

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X-linked hypophosphatemia and burosumab: practical clinical points from the French experience.

Joint Bone Spine 2021 Jun 5:105208. Epub 2021 Jun 5.

APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France. Electronic address:

Hereditary hypophosphatemia with increased FGF23 levels are rare inherited metabolic diseases characterized by low serum phosphate because of impaired renal tubular phosphate reabsorption. The most common form is X-linked hypophosphatemia (XLH), secondary to a mutation in the PHEX gene. In children, XLH is often manifested by rickets, delayed development of gait, lower limb deformities, growth retardation, craniosynostosis, and spontaneous dental abscesses. Read More

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Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan.

J Neurol Sci 2021 May 27;427:117511. Epub 2021 May 27.

Department of Neurology, National Hospital Organization Aomori National Hospital, Namioka, Aomori 038-1331, Japan. Electronic address:

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, affecting multiple organs, including the eyes, heart, endocrine system, and central nervous system. The broad spectrum of DM1 symptoms has been attributed to the aberrant pre-mRNA splicing of various genes due to an abnormal expansion of the CTG repeat in the 3' untranslated region of the DMPK gene. The current challenge in the clinical care of DM1 is the lack of well-established protocols for the management of each organ disorder or symptom. Read More

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Mitochondrial Bioenergetics and Turnover during Chronic Muscle Disuse.

Int J Mol Sci 2021 May 13;22(10). Epub 2021 May 13.

Muscle Health Research Centre, School of Kinesiology and Health Science, York University, Toronto, ON M3J 1P3, Canada.

Periods of muscle disuse promote marked mitochondrial alterations that contribute to the impaired metabolic health and degree of atrophy in the muscle. Thus, understanding the molecular underpinnings of muscle mitochondrial decline with prolonged inactivity is of considerable interest. There are translational applications to patients subjected to limb immobilization following injury, illness-induced bed rest, neuropathies, and even microgravity. Read More

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Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report.

Children (Basel) 2021 May 11;8(5). Epub 2021 May 11.

Department of Rehabilitation Medicine, Keimyung University Dongsan Hospital, Keimyung University school of Medicine, Daegu 42601, Korea.

Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effective treatments. Current treatments based on genetic therapy can improve clinical results, but treatment must begin as early as possible before significant muscle damage. Read More

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nat Med 2021 May 31. Epub 2021 May 31.

Department of Neurology, Hereditary Neuropathy Foundation Center of Excellence, Neuroscience Institute, Hackensack University Medical Center, Hackensack Meridian School of Medicine, Hackensack, NJ, USA.

Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of motor neuron degeneration and disease progression vary widely among individuals with ALS. Various cellular processes may drive ALS pathomechanisms, but a monogenic direct metabolic disturbance has not been causally linked to ALS. Read More

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Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.

Mol Genet Metab 2021 Jul 13;133(3):261-268. Epub 2021 May 13.

Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC, USA.

Late-onset Pompe disease (LOPD) is an inherited autosomal recessive progressive metabolic myopathy that presents in the first year of life to adulthood. Clinical presentation is heterogeneous, differential diagnosis is challenging, and diagnostic delay is common. One challenge to differential diagnosis is the overlap of clinical features with those encountered in other forms of acquired/hereditary myopathy. Read More

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Potential Utility of Electrical Impedance Myography in Evaluating Age-Related Skeletal Muscle Function Deficits.

Front Physiol 2021 7;12:666964. Epub 2021 May 7.

Department of Neurology, Ohio State University, Columbus, OH, United States.

Skeletal muscle function deficits associated with advancing age are due to several physiological and morphological changes including loss of muscle size and quality (conceptualized as a reduction in the intrinsic force-generating capacity of a muscle when adjusted for muscle size). Several factors can contribute to loss of muscle quality, including denervation, excitation-contraction uncoupling, increased fibrosis, and myosteatosis (excessive levels of inter- and intramuscular adipose tissue and intramyocellular lipids). These factors also adversely affect metabolic function. Read More

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[Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010].

Med Sci (Paris) 2021 May 18;37(5):441-456. Epub 2021 May 18.

International Society for Neonatal Screening (ISNS) Office, Bilthoven, Pays-Bas.

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990's with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions in one blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular genetics techniques. Read More

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Non-drug therapies for the secondary prevention of lower limb muscle cramps.

Cochrane Database Syst Rev 2021 05 17;5:CD008496. Epub 2021 May 17.

University of Sydney School of Health Sciences, Faculty of Medicine and Health, Sydney, Australia.

Background: Lower limb muscle cramps are common and painful. They can limit exercise participation, and reduce quality of sleep, and quality of life. Many interventions are available for lower limb cramps; some are controversial or could cause harm, and often, people experience no benefit from the interventions used. Read More

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Transferrin receptor 1 ablation in satellite cells impedes skeletal muscle regeneration through activation of ferroptosis.

J Cachexia Sarcopenia Muscle 2021 Jun 6;12(3):746-768. Epub 2021 May 6.

Guangdong Provincial Key Laboratory of Microbial Culture Collection and Application, State Key Laboratory of Applied Microbiology Southern China, Institute of Microbiology, Guangdong Academy of Sciences, Guangzhou, China.

Background: Satellite cells (SCs) are critical to skeletal muscle regeneration. Inactivation of SCs is linked to skeletal muscle loss. Transferrin receptor 1 (Tfr1) is associated with muscular dysfunction as muscle-specific deletion of Tfr1 results in growth retardation, metabolic disorder, and lethality, shedding light on the importance of Tfr1 in muscle physiology. Read More

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Cecal microbiota contribute to the development of woody breast myopathy.

Poult Sci 2021 Jun 13;100(6):101124. Epub 2021 Mar 13.

Department of Food Science, Nutrition, and Health Promotion, Mississippi State University, Mississippi State, MS 39762, USA. Electronic address:

The objective of this study was to characterize the bacterial diversity of cecal microbiota in broilers related to breast phenotype, diet, and genetic strain. Broilers from 2 genetic strains (120 birds/strain) were fed a control diet (15 birds/pen) and an amino acid reduced diet (15 birds/pen, digestible lysine, total sulfur amino acids, and threonine reduced by 20% compared to the control diet). At 8 wk of age, 4 male broilers with normal breast (NB, 1 chick per pen) and 4 male broilers with woody breast (WB, 1 chick per pen) were selected for each treatment (strain × diet). Read More

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20-Hydroxyecdysone, from Plant Extracts to Clinical Use: Therapeutic Potential for the Treatment of Neuromuscular, Cardio-Metabolic and Respiratory Diseases.

Biomedicines 2021 Apr 29;9(5). Epub 2021 Apr 29.

Biophytis, Sorbonne Université, BC9, 4 place Jussieu, 75005 Paris, France.

There is growing interest in the pharmaceutical and medical applications of 20-hydroxyecdysone (20E), a polyhydroxylated steroid which naturally occurs in low but very significant amounts in invertebrates, where it has hormonal roles, and in certain plant species, where it is believed to contribute to the deterrence of invertebrate predators. Studies in vivo and in vitro have revealed beneficial effects in mammals: anabolic, hypolipidemic, anti-diabetic, anti-inflammatory, hepatoprotective, etc. The possible mode of action in mammals has been determined recently, with the main mechanism involving the activation of the Mas1 receptor, a key component of the renin-angiotensin system, which would explain many of the pleiotropic effects observed in the different animal models. Read More

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Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.

Ideggyogy Sz 2021 Mar;74(3-4):135-138

Department of Medical Genetics, Bezmialem Vakif University Istanbul, Turkey.

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal inherited metabolic disorder in which the β-oxidation of the long chain fatty acids is defective. The clinical presentation may be in various forms; it presents itself in the severe form during neonatal and infantile periods and as the less severe myopathic form in the school age and adolescence. While the severity of the rhabdomyolysis attacks varies, occasionally the clinical course may be complicated with acute renal failure. Read More

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Skeletal Muscle Proteomic Profile Revealed Gender-Related Metabolic Responses in a Diet-Induced Obesity Animal Model.

Int J Mol Sci 2021 Apr 28;22(9). Epub 2021 Apr 28.

Department of Biomedical Sciences for Health, University of Milan, 20090 Segrate, Italy.

Obesity is a chronic, complex pathology associated with a risk of developing secondary pathologies, including cardiovascular diseases, cancer, type 2 diabetes (T2DM) and musculoskeletal disorders. Since skeletal muscle accounts for more than 70% of total glucose disposal, metabolic alterations are strictly associated with the onset of insulin resistance and T2DM. The present study relies on the proteomic analysis of gastrocnemius muscle from 15 male and 15 female C56BL/J mice fed for 14 weeks with standard, 45% or 60% high-fat diets (HFD) adopting a label-free LC-MS/MS approach followed by bioinformatic pathway analysis. Read More

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Beneficial Effects of Early Time-Restricted Feeding on Metabolic Diseases: Importance of Aligning Food Habits with the Circadian Clock.

Nutrients 2021 Apr 22;13(5). Epub 2021 Apr 22.

CRBS, UR3072: Mitochondria, Oxidative Stress and Muscular Protection, University of Strasbourg, 1 rue Eugène Boeckel, 67000 Strasbourg, France.

The importance of metabolic health is a major societal concern due to the increasing prevalence of metabolic diseases such as obesity, diabetes, and various cardiovascular diseases. The circadian clock is clearly implicated in the development of these metabolic diseases. Indeed, it regulates physiological processes by hormone modulation, thus helping the body to perform them at the ideal time of day. Read More

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Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.

Int J Mol Sci 2021 Apr 6;22(7). Epub 2021 Apr 6.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center-University of Freiburg, 79106 Freiburg, Germany.

In general, metabolic flexibility refers to an organism's capacity to adapt to metabolic changes due to differing energy demands. The aim of this work is to summarize and discuss recent findings regarding variables that modulate energy regulation in two different pathways of mitochondrial fatty metabolism: β-oxidation and fatty acid biosynthesis. We focus specifically on two diseases: very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and malonyl-CoA synthetase deficiency (acyl-CoA synthetase family member 3 (ACSF3)) deficiency, which are both characterized by alterations in metabolic flexibility. Read More

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Fourier-Transform Infrared Spectroscopy as a Discriminatory Tool for Myotonic Dystrophy Type 1 Metabolism: A Pilot Study.

Int J Environ Res Public Health 2021 04 6;18(7). Epub 2021 Apr 6.

Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal.

Myotonic dystrophy type 1 (DM1) is a hereditary disease characterized by progressive distal muscle weakness and myotonia. Patients with DM1 have abnormal lipid metabolism and a high propensity to develop a metabolic syndrome in comparison to the general population. It follows that metabolome evaluation in these patients is crucial and may contribute to a better characterization and discrimination between DM1 disease phenotypes and severities. Read More

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Pathophysiology of skeletal muscle disturbances in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).

J Transl Med 2021 04 21;19(1):162. Epub 2021 Apr 21.

Institute of Medical Immunology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Chronic Fatigue Syndrome or Myalgic Encephaloymelitis (ME/CFS) is a frequent debilitating disease with an enigmatic etiology. The finding of autoantibodies against ß2-adrenergic receptors (ß2AdR) prompted us to hypothesize that ß2AdR dysfunction is of critical importance in the pathophysiology of ME/CFS. Our hypothesis published previously considers ME/CFS as a disease caused by a dysfunctional autonomic nervous system (ANS) system: sympathetic overactivity in the presence of vascular dysregulation by ß2AdR dysfunction causes predominance of vasoconstrictor influences in brain and skeletal muscles, which in the latter is opposed by the metabolically stimulated release of endogenous vasodilators (functional sympatholysis). Read More

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Deciphering Myostatin's Regulatory, Metabolic, and Developmental Influence in Skeletal Diseases.

Front Genet 2021 29;12:662908. Epub 2021 Mar 29.

Department of Biochemistry, University of Missouri, Columbia, MO, United States.

Current research findings in humans and other mammalian and non-mammalian species support the potent regulatory role of myostatin in the morphology and function of muscle as well as cellular differentiation and metabolism, with real-life implications in agricultural meat production and human disease. Myostatin null mice ( ) exhibit skeletal muscle fiber hyperplasia and hypertrophy whereas myostatin deficiency in larger mammals like sheep and pigs engender muscle fiber hyperplasia. Myostatin's impact extends beyond muscles, with alterations in myostatin present in the pathophysiology of myocardial infarctions, inflammation, insulin resistance, diabetes, aging, cancer cachexia, and musculoskeletal disease. Read More

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Diagnostic yield of muscle biopsies in pediatric population: a tertiary center experience.

Rev Neurol 2021 Apr;72(8):283-287

Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.

Introduction:

Background And Aim: Muscle biopsy is still an important exam on the investigation of neuromuscular diseases although data regarding its diagnostic yield can be disappointing. We aimed to analyze the diagnostic yield of muscle biopsies in the pediatric population.

Patients And Methods: We retrospectively analyzed a tertiary Neuropathology laboratory database to identify patients (<18 years old), submitted to muscle biopsy between January 2015 and August 2019. Read More

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Mitochondrial dysfunction and potential mitochondrial protectant treatments in tendinopathy.

Ann N Y Acad Sci 2021 04 11;1490(1):29-41. Epub 2021 Apr 11.

Orthopedic Soft Tissue Research Program, Hospital for Special Surgery, New York, New York.

Tendinopathy is a common musculoskeletal condition that affects a wide range of patients, including athletes, laborers, and older patients. Tendinopathy is often characterized by pain, swelling, and impaired performance and function. The etiology of tendinopathy is multifactorial, including both intrinsic and extrinsic mechanisms. Read More

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Role of fibro-adipogenic progenitor cells in muscle atrophy and musculoskeletal diseases.

Curr Opin Pharmacol 2021 Jun 8;58:1-7. Epub 2021 Apr 8.

Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA. Electronic address:

Maintaining muscle mass is clinically important as muscle helps to regulate metabolic systems of the body as well as support activities of daily living that require mobility, strength, and power. Losing muscle mass decreases an individual's independence and quality of life, and at the same time increases the risk of disease burden. Fibro-adipogenic progenitor (FAP) cells are a group of muscle progenitor cells that play an important role in muscle regeneration and maintenance of skeletal muscle fiber size. Read More

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Defective dystrophic thymus determines degenerative changes in skeletal muscle.

Nat Commun 2021 04 8;12(1):2099. Epub 2021 Apr 8.

Stem Cell Laboratory, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Unit of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, Milan, Italy.

In Duchenne muscular dystrophy (DMD), sarcolemma fragility and myofiber necrosis produce cellular debris that attract inflammatory cells. Macrophages and T-lymphocytes infiltrate muscles in response to damage-associated molecular pattern signalling and the release of TNF-α, TGF-β and interleukins prevent skeletal muscle improvement from the inflammation. This immunological scenario was extended by the discovery of a specific response to muscle antigens and a role for regulatory T cells (Tregs) in muscle regeneration. Read More

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Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome in pregnancy.

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Wessex Fetal Medicine Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

The syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare mitochondrial disease with few documented cases in pregnancy. In this case report, we discuss the presentation and management of a 39-year-old grand multiparous lady with MELAS syndrome, which was diagnosed prior to her eighth pregnancy, discuss potential implications of the condition in pregnancy and summarise the current guidelines for the management of this rare condition. Read More

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Metabolic Targets of Coenzyme Q10 in Mitochondria.

Antioxidants (Basel) 2021 Mar 26;10(4). Epub 2021 Mar 26.

Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, 18016 Granada, Spain.

Coenzyme Q10 (CoQ) is classically viewed as an important endogenous antioxidant and key component of the mitochondrial respiratory chain. For this second function, CoQ molecules seem to be dynamically segmented in a pool attached and engulfed by the super-complexes I + III, and a free pool available for complex II or any other mitochondrial enzyme that uses CoQ as a cofactor. This CoQ-free pool is, therefore, used by enzymes that link the mitochondrial respiratory chain to other pathways, such as the pyrimidine de novo biosynthesis, fatty acid β-oxidation and amino acid catabolism, glycine metabolism, proline, glyoxylate and arginine metabolism, and sulfide oxidation metabolism. Read More

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Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

Int J Neonatal Screen 2021 Mar 5;7(1). Epub 2021 Mar 5.

Norwegian National Unit for Newborn Screening, 0424 Oslo, Norway.

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. Read More

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