Full Text Journal Articles about
Inherited Metabolic Disorders Overview

Advertisement

Find full text journal articles






Rare inherited kidney diseases: an evolving field in Nephrology.

Mariana Faucz Munhoz da Cunha, Gabriela Sevignani, Giovana Memari Pavanelli, Mauricio de Carvalho, Fellype Carvalho Barreto,

There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field. Molecular testing has ... Read more >>

J Bras Nefrol (Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Inborn errors of metabolism leading to neuronal migration defects.

Stina Schiller, Hendrik Rosewich, Stephanie Grünewald, Jutta Gärtner,

The development and organisation of the human brain start in the embryonic stage and is a highly complex orchestrated process. It depends on series of cellular mechanisms that are precisely regulated by multiple proteins, signalling pathways and non-protein-coding genes. A crucial process during cerebral cortex development is the migration of ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, 43(1):145-155]

Cited: 0 times

View full text PDF listing >>



Advertisement

Inherited metabolic disorders and dyslipidaemia.

Raashda A Sulaiman,

Monogenic dyslipidaemia is a diverse group of multisystem disorders. Patients may present to various specialities from early childhood to late in adult life, and it usually takes longer before the diagnosis is established. Increased awareness of these disorders among clinicians is imperative for early diagnosis. This best practice review provides ... Read more >>

J. Clin. Pathol. (Journal of clinical pathology)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Clinical and genetic evaluation after sudden cardiac arrest.

Stephanie L Harris, Steven A Lubitz,

Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) can be attributed to cardiac, respiratory, metabolic, and toxicologic etiologies. Most cases of SCD are caused by coronary artery disease and approximately 40% of cardiac arrests are unexplained. Inherited arrythmias and cardiomyopathies are important contributors to SCA and SCD. Identifying an ... Read more >>

J. Cardiovasc. Electrophysiol. (Journal of cardiovascular electrophysiology)
[2020, 31(2):570-578]

Cited: 0 times

View full text PDF listing >>



AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

Fabio Nascimbeni, Carlo Dionisi Vici, Umberto Vespasiani Gentilucci, Francesco Angelico, Valerio Nobili, Salvatore Petta, Luca Valenti, ,

Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Knockout Mouse Models for Peroxiredoxins.

Young Jae Lee,

Peroxiredoxins (PRDXs) are members of a highly conserved peroxidase family and maintain intracellular reactive oxygen species (ROS) homeostasis. The family members are expressed in most organisms and involved in various biological processes, such as cellular protection against ROS, inflammation, carcinogenesis, atherosclerosis, heart diseases, and metabolism. In mammals, six PRDX members ... Read more >>

Antioxidants (Basel) (Antioxidants (Basel, Switzerland))
[2020, 9(2):]

Cited: 0 times

View full text PDF listing >>



Empathy In Neurodegenerative Diseases: A Systematic Review.

Emanuele Pick, Johann R Kleinbub, Stefania Mannarini, Arianna Palmieri,

Introduction:Empathy, in its affective and cognitive components, is a crucial interpersonal ability. It is broadly studied in the field of psychopathology, whereas its study in the neurodegenerative diseases is relatively recent. Existing literature, though, focused on a reduced subset of considered diseases, which often found a compromise in empathy abilities. ... Read more >>

Neuropsychiatr Dis Treat (Neuropsychiatric Disease and Treatment)
[2019, 15:3287-3304]

Cited: 0 times

View full text PDF listing >>



Gene-Based Approaches to Inherited Neurometabolic Diseases.

Valentina Poletti, Alessandra Biffi,

In the last decade, the gene therapy (GT) field experienced a renaissance, thanks to crucial understandings and innovations in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery. These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel ... Read more >>

Hum. Gene Ther. (Human gene therapy)
[2019, 30(10):1222-1235]

Cited: 0 times

View full text PDF listing >>



Use of the movie "Lorenzo's Oil" for didactic purposes in neuroscience and others health fields.

Lauana Lopes Gonçalves, Tales Alexandre Aversi-Ferreira,

Although the traditional method of teaching is still the most popular nowadays, the use of different methodologies such as play approaches, for instance, could be used to make the teaching-learning process a more active approach. Nonetheless, the use of films that represent true stories are more pertinent in active teaching, ... Read more >>

Dement Neuropsychol (Dementia & neuropsychologia)
[2020, 14(1):7-13]

Cited: 0 times

View full text PDF listing >>



New developments in the management of achondroplasia.

Wolfgang Högler, Leanne M Ward,

Achondroplasia is the most common form of disproportionate short stature. A dominantly inherited FGFR3 mutation permanently activates the fibroblast growth factor receptor 3 (FGFR3) and its downstream mitogen-activated protein kinase (MAPK) signalling pathway. This inhibits chondrocyte differentiation and puts a break on growth plate function, in addition to causing serious medical complications such ... Read more >>

Wien Med Wochenschr (Wiener medizinische Wochenschrift (1946))
[2020, 170(5-6):104-111]

Cited: 0 times

View full text PDF listing >>



Editorial: Iron and Neurodegeneration.

Giorgio Biasiotto, Massimiliano Filosto, Isabella Zanella,

Front Neurosci (Frontiers in neuroscience)
[2019, 13:1382]

Cited: 0 times

View full text PDF listing >>



3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Sarah C Grünert, Jörn Oliver Sass,

BACKGROUND:3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. METHOD:We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):48]

Cited: 0 times

View full text PDF listing >>



Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.

Weiqian Dai, Deyun Lu, Xuefan Gu, Yongguo Yu, ,

BACKGROUND:Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. METHODS:We demonstrated 14 previously undescribed patients together with three reportedly patients in Mainland China. Full clinical information was ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, 8(3):e1143]

Cited: 0 times

View full text PDF listing >>



Links between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.

Benjamin L Farah, Paul M Yen, Dwight D Koeberl,

The glycogen storage diseases are a group of inherited metabolic disorders that are characterized by specific enzymatic defects involving the synthesis or degradation of glycogen. Each disorder presents with a set of symptoms that are due to the underlying enzyme deficiency and the particular tissues that are affected. Autophagy is ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2020, 129(1):3-12]

Cited: 0 times

View full text PDF listing >>



Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Anna Caciotti, Federico Melani, Rodolfo Tonin, Lucrezia Cellai, Serena Catarzi, Elena Procopio, Chiara Chilleri, Irene Mavridou, Helen Michelakakis, Antonella Fioravanti, Alessandra d'Azzo, Renzo Guerrini, Amelia Morrone,

Lysosomal storage diseases (LSDs) are rare to extremely rare monogenic disorders. Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2020, 129(2):47-58]

Cited: 0 times

View full text PDF listing >>



Dietary Trace Minerals.

Elad Tako,

Dietary trace minerals are pivotal and hold a key role in numerous metabolic processes. Trace mineral deficiencies (except for iodine, iron, and zinc) do not often develop spontaneously in adults on ordinary diets; infants are more vulnerable because their growth is rapid and intake varies. Trace mineral imbalances can result ... Read more >>

Nutrients (Nutrients)
[2019, 11(11):]

Cited: 0 times

View full text PDF listing >>



Regional Overview on Maternal Nutrition and Examples of Health System Programme and Policy Responses: Asia and the Pacific.

Angela de Silva, Juliawati Untoro, Jessica Blankenship, Emorn Udomkesmalee,

BACKGROUND:The double burden of malnutrition in Asia and the Pacific is driving a renewed focus on maternal malnutrition. SUMMARY:Though adverse consequences of maternal malnutrition have been long recognized, there is slow progress in addressing nutritional problems of women/adolescent girls. Coverage and quality of current maternal nutrition interventions, mostly delivered through ... Read more >>

Ann. Nutr. Metab. (Annals of nutrition & metabolism)
[2019, 75(2):131-134]

Cited: 0 times

View full text PDF listing >>



The Challenge of Disease-Modifying Therapies in Parkinson's Disease: Role of CSF Biomarkers.

Federico Paolini Paoletti, Lorenzo Gaetani, Lucilla Parnetti,

The development of disease modifying strategies in Parkinson's disease (PD) largely depends on the ability to identify suitable populations after accurate diagnostic work-up. Therefore, patient molecular profiling and disease subtyping are mandatory. Thus far, in clinical trials, PD has been considered to be a "single entity". Conversely, in front of ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(2):]

Cited: 0 times

View full text PDF listing >>



Understanding the Complex of Suicide in Depression: from Research to Clinics.

Laura Orsolini, Roberto Latini, Maurizio Pompili, Gianluca Serafini, Umberto Volpe, Federica Vellante, Michele Fornaro, Alessandro Valchera, Carmine Tomasetti, Silvia Fraticelli, Marco Alessandrini, Raffaella La Rovere, Sabatino Trotta, Giovanni Martinotti, Massimo Di Giannantonio, Domenico De Berardis,

OBJECTIVE:Amongst psychiatric disorders, major depressive disorder (MDD) is the most prevalent, by affecting approximately 15-17% of the population and showing a high suicide risk rate equivalent to around 15%. The present comprehensive overview aims at evaluating main research studies in the field of MDD at suicide risk, by proposing as ... Read more >>

Psychiatry Investig (Psychiatry investigation)
[2020, 17(3):207-221]

Cited: 0 times

View full text PDF listing >>



The Horizon of Gene Therapy in Modern Medicine: Advances and Challenges.

Babak Arjmand, Bagher Larijani, Motahareh Sheikh Hosseini, Moloud Payab, Kambiz Gilany, Parisa Goodarzi, Peyvand Parhizkar Roudsari, Mobina Amanollahi Baharvand, Negin Sadat Hoseini Mohammadi,

Gene therapy as a novel study in molecular medicine will have a significant impact on human health in the near future. In recent years, the scope of gene therapy has been developed and is now beginning to revolutionize therapeutic approaches. Accordingly, many types of diseases are now being studied and ... Read more >>

Adv. Exp. Med. Biol. (Advances in experimental medicine and biology)
[2019, :]

Cited: 0 times

View full text PDF listing >>



Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

Hanneke A Haijes, Judith J M Jans, Simone Y Tas, Nanda M Verhoeven-Duif, Peter M van Hasselt,

Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in improved survival. These advances were possible thanks to new pathophysiological insights. However, patients may still suffer from devastating complications which largely determine the unsatisfying overall outcome. To ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2019, 42(5):730-744]

Cited: 0 times

View full text PDF listing >>



Linking the mitochondrial genotype to phenotype: a complex endeavour.

Fabrizio Ghiselli, Liliana Milani,

Finding causal links between genotype and phenotype is a major issue in biology, even more in mitochondrial biology. First of all, mitochondria form complex networks, undergoing fission and fusion and we do not know how such dynamics influence the distribution of mtDNA variants across the mitochondrial network and how they ... Read more >>

Philos. Trans. R. Soc. Lond., B, Biol. Sci. (Philosophical transactions of the Royal Society of London. Series B, Biological sciences)
[2020, 375(1790):20190169]

Cited: 0 times

View full text PDF listing >>



Inborn errors of enzymes in glutamate metabolism.

Lynne Rumping, Esmee Vringer, Roderick H J Houwen, Peter M van Hasselt, Judith J M Jans, Nanda M Verhoeven-Duif,

Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism. Seventeen genetic defects of glutamate metabolising enzymes have been reported, of which three were only recently identified. These 17 defects affect ... Read more >>

J. Inherit. Metab. Dis. (Journal of inherited metabolic disease)
[2020, 43(2):200-215]

Cited: 0 times

View full text PDF listing >>



Personalized medicine in chronic kidney disease by detection of monogenic mutations.

Dervla M Connaughton, Friedhelm Hildebrandt,

A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in origin. To date, ∼450 monogenic (synonymous with single-gene disorders) genes, if mutated, are known to cause CKD, explaining ∼30% of cases in pediatric cohorts and ∼5-30% in adult cohorts. However, there are likely hundreds of ... Read more >>

Nephrol. Dial. Transplant. (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association)
[2020, 35(3):390-397]

Cited: 0 times

View full text PDF listing >>



Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies.

Khurshid Ahmad, Sibhghatulla Shaikh, Syed Sayeed Ahmad, Eun Ju Lee, Inho Choi,

Skeletal muscle (SM) comprises around 40% of total body weight and is among the most important plastic tissues, as it supports skeletal development, controls body temperature, and manages glucose levels. Extracellular matrix (ECM) maintains the integrity of SM, enables biochemical signaling, provides structural support, and plays a vital role during ... Read more >>

Front Pharmacol (Frontiers in pharmacology)
[2020, 11:142]

Cited: 0 times

View full text PDF listing >>



Advertisement

Disclaimer
0.896 s