|1.||Hematologic Neoplasms (Hematological Malignancy)
|5.||Tumor Lysis Syndrome
|1.||Hoffmann, G F: 6 articles (08/2009 - 02/2000)|
|2.||Hoffmann, Georg F: 5 articles (12/2009 - 11/2002)|
|3.||Wevers, Ron A: 4 articles (01/2015 - 01/2004)|
|4.||Lam, Ching-Wan: 4 articles (01/2015 - 08/2010)|
|5.||Najimi, Mustapha: 4 articles (04/2014 - 01/2007)|
|6.||Sokal, Etienne M: 4 articles (04/2014 - 08/2003)|
|7.||Meyburg, Jochen: 4 articles (12/2009 - 11/2002)|
|8.||Esposito, Susanna: 3 articles (11/2015 - 11/2012)|
|9.||Principi, Nicola: 3 articles (11/2015 - 11/2012)|
|10.||Menni, Francesca: 3 articles (11/2015 - 11/2012)|
|1.||Proteins (Proteins, Gene)IBA
05/01/2012 - "We present here a methodological strategy that may be used in cell lysates to evaluate properties of proteins that tend to misfold and aggregate and that may be important for conformational studies of disease-causing mutations in the field of inborn errors of metabolism."
06/01/2015 - "Inborn errors of metabolism (IEM) are traditionally defined by enzymatic deficiencies or defects in proteins involved in cellular metabolism. "
05/01/2013 - "These synthesis defects of complex lipid molecules stand at the frontier between classical inborn errors of metabolism and other genetic diseases involving the metabolism of structural proteins."
08/01/2007 - "Taken together, our data show that chemical chaperones present during the initial folding process can facilitate proper folding of several mutant CBS proteins and suggest it may be possible to treat some inborn errors of metabolism with agents that enhance proper protein folding."
05/01/1999 - "The second definition is not as clear-cut and is for the analysis of proteins and metabolites used predominantly to detect inborn errors of metabolism. "
07/01/2015 - "A good appraisal of the function of enzymes is essential for the understanding of inborn errors of metabolism. "
06/01/2015 - "Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-products. "
02/18/2015 - "Inborn errors of metabolism (IEM) are due to mutations of genes coding for enzymes of intermediary metabolism and are classified into 3 broad categories: 1) intoxication, 2) energy defect and 3) cellular organelles synthesis or catabolism defect. "
05/01/2013 - "Inborn errors of metabolism (IEM) are genetic diseases caused by mutations in enzymes or transporters affecting specific metabolic reactions that cause a block in the physiological metabolic fluxes. "
01/01/2012 - "Inborn errors of metabolism affecting those four enzymes are presented and discussed in the context of differential diagnoses. "
|3.||Bone Marrow failure syndromesIBA
04/17/2006 - "Haematopoietic stem cell transplantation is an accepted curative therapy for many cancers and inherited non-malignant diseases, including bone marrow failure syndromes, haemoglobinopathies, and inborn errors of metabolism. "
08/01/2014 - "A wide variety of hematologic malignancies, autoimmune diseases, inborn errors of metabolism, and bone marrow failure syndromes maybe put into a remission or potentially cured by hematopoietic stem cell transplantation (HSCT). "
01/01/2000 - "HLA-identical bone marrow or stem cell transplantation from a sibling is the preferred treatment for patients with chronic myelogenous leukemia, bone marrow failure syndromes, relapsed acute leukemia, and specific inborn errors of metabolism. "
|4.||Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
|7.||Carnitine (L-Carnitine)FDA LinkGeneric
11/01/2015 - "Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy."
05/01/2015 - "In this regard, it was recently reported that MSUD patients have deficiency of l-carnitine (l-car), a compound with antioxidant properties that is used as adjuvant therapy in various inborn errors of metabolism. "
01/01/2012 - "To assess the effectiveness and safety of carnitine supplementation in the treatment of inborn errors of metabolism. "
01/01/2012 - "Carnitine supplementation is used in the treatment of primary carnitine deficiency, and also where the deficiency is a secondary complication of several inborn errors of metabolism, such as organic acidaemias and fatty acid oxidation defects in children and adults. "
01/01/2012 - "Carnitine supplementation for inborn errors of metabolism."
|8.||Urea (Carbamide)FDA LinkGeneric
06/01/2002 - "Specific illustrative inborn errors of metabolism are discussed (aminoacidemias, urea cycle defects, organic acidemias, fatty acid oxidation defects, disorders of carbohydrate metabolism, lysosomal storage disorders) in light of potential problems encountered in adolescence and adulthood, including issues involving pregnancy and long-term medical, psychosocial, and psychiatric complications."
12/01/1998 - "Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. "
04/01/2013 - "Hepatic encephalopathy (HE) is a serious but usually reversible neuropsychiatric complication of cirrhosis, inborn errors of metabolism involving disorders of the urea cycle, and noncirrhotic portosystemic shunting that most commonly arises from a transjugular intrahepatic portosystemic shunting procedure. "
06/01/2009 - "Here, we examine the expression of genes involved in the urea cycle and the nitric oxide cycle in a panel of eleven different tissue samples obtained from individual adults without known inborn errors of metabolism. "
08/05/2008 - "Amino acids and acylcarnitines in the dry blood filter papers were tested by MS/MS, and the organic acid profiles in urea were tested by GC-MS among 4981 children suspected to be with inborn errors of metabolism from more than 100 hospitals in China. "
|9.||DNA (Deoxyribonucleic Acid)IBA
03/01/2009 - "Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis. "
05/01/2007 - "As the number of inborn errors of metabolism that can be diagnosed prenatally by direct DNA analysis increases, so will the number of patients interested in having prenatal diagnosis for these conditions. "
12/01/1999 - "[DNA diagnosis of inborn errors of metabolism]."
02/01/1996 - "Since most inborn errors of metabolism are not common disorders, it is hard to find a common mutation highly useful for the DNA diagnosis. "
01/01/1994 - "DNA techniques for screening of inborn errors of metabolism."
06/01/2004 - "At a tertiary referral centre, just over 50% of patients with plasma ammonia values over 200 micro mol/l had inborn errors of metabolism. "
07/01/2012 - "An increased level of ammonia in the bloodstream, or hyperammonemia, is a symptom associated with metabolic disorders referred to as inborn errors of metabolism. "
01/01/2010 - "Urea cycle disorders (UCD) represent a group of rare inborn errors of metabolism that carry a high risk of mortality and neurological morbidity resulting from the effects of accumulation of ammonia and other biochemical intermediates. "
10/01/2007 - "This article reviews ammonia metabolism, the effects of ammonia on the brain, the causes of hyperammonemia, and the diagnosis of inborn errors of metabolism in adult patients."
09/01/2008 - "In Reye-like syndrome, because of inborn errors of metabolism, hypoglycemia, hypoketonemia, elevated ammonia, and organic aciduria are often evident. "
09/01/2005 - "Liver transplantation was an effective treatment for all 4 of these patients with inborn errors of metabolism. "
01/01/2004 - "Liver transplantation for inborn errors of metabolism has proved effective in some (mostly liver-associated) inborn errors of metabolism. "
09/01/2005 - "Liver transplantation could be a useful treatment for selected inborn errors of metabolism. "
08/01/2006 - "Liver transplantation is an accepted option of treatment in patients with inborn errors of metabolism limited to or mainly located into hepatocytes who have not responded well to medical treatment. "
05/01/2008 - "The aim of this article is to provide essential information for hepatologists, who primarily care for adults, regarding liver-based inborn errors of metabolism with particular reference to those that may be treatable with liver transplantation and to provide adequate references for more in-depth study should one of these disease states be encountered."
|2.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
10/01/1990 - "Bone marrow transplantation offers a potential cure for patients suffering from genetic diseases such as inborn errors of metabolism. "
04/01/2000 - "Bone marrow transplantation (BMT) is increasingly used in an attempt to correct inborn errors of metabolism (IEM). "
12/13/1995 - "Bone marrow transplantation has become the therapeutic method in some forms of malignant haemotopoietic diseases, malignant tumours, inborn errors of metabolism and immunodeficiency states. "
09/21/1992 - "Over the last 20 years allogeneic bone marrow transplantation from an HLA-identical sibling donor has become the treatment of choice for a number of human haematological malignancies, severe aplastic anaemia, some congenital diseases of the immune and haemopoietic systems, and some inborn errors of metabolism. "
08/01/1988 - "Outcome of displacement bone marrow transplantation for inborn errors of metabolism."
|3.||Transplantation (Transplant Recipients)
04/01/2011 - "Mature liver cell - hepatocyte - transplantation has been shown to have short- to medium-term efficacy for correction of miscellaneous inborn errors of metabolism. "
11/01/2014 - "Transplantation in inborn errors of metabolism: current considerations and future perspectives."
01/01/2013 - "Transplantation in patients with inborn errors of metabolism (IEM) may be used as rescue therapy for acute decompensation, organ replacement, or disease-modifying therapy. "
01/01/2013 - "Barriers to transplantation in adults with inborn errors of metabolism."
01/01/2012 - "In this aspect, transplantation in PNP deficiency is similar to transplantation in other inborn errors of metabolism where the engrafted donor cells deliver enzyme and restore function to deficient tissues. "
11/01/2014 - "Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following haemopoietic cell transplantation (HCT). "
09/01/2012 - "Long-term survival and late deaths after hematopoietic cell transplantation for primary immunodeficiency diseases and inborn errors of metabolism."
06/14/2008 - "Liver cell transplantation is an attractive technique to treat liver-based inborn errors of metabolism. "
04/01/2008 - "Liver cell transplantation for the treatment of inborn errors of metabolism."
04/01/2006 - "Trends in haematopoietic cell transplantation for inborn errors of metabolism."
|5.||Renal Dialysis (Hemodialysis)
01/01/2014 - "Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism."
01/01/2008 - "Peritoneal and extracorporeal dialysis are used to treat newborns affected by inborn errors of metabolism to minimize the effects of the acute accumulation of neurotoxic metabolites that can produce irreversible and severe neurological damage and even death. "
01/01/1990 - "Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism."
01/01/2008 - "In recent papers, extracorporeal dialysis has been described as more effective than peritoneal dialysis in improving the prognosis in newborns with inborn errors of metabolism and hyperammonemia. "
11/01/1999 - "Continuous removal of endogenous toxins, eventually combined with intermittent hemodialysis, is probably beneficial in inborn errors of metabolism, severe lactic acidosis, or tumor lysis syndrome."