Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.

abstract：:Morphometry of peroxisomes is performed on electron micrographs of ultrathin sections after staining for catalase activity with diaminobenzidine; specific peroxisomal labelling is preferred to guarantee recognition. Peroxisomal number, size, axial ratio and volume parameters are determined and compared to control valu...

journal_title：Journal of inherited metabolic disease

authors： Kerckaert I,De Craemer D,Van Limbergen G

更新日期：1995-01-01 00:00:00

abstract：:The immunochemical analysis of enzyme from mucopolysaccharidoses (MPS) patients is aimed at defining the level and nature of the enzymically deficient protein produced by specific gene mutations. Immunochemical techniques allow purification of enzyme, characterization of the composite molecular species, measurement of...

journal_title：Journal of inherited metabolic disease

authors： Brooks DA

更新日期：1993-01-01 00:00:00

abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset ca...

journal_title：Journal of inherited metabolic disease

authors： Stelten BML,Bonnot O,Huidekoper HH,van Spronsen FJ,van Hasselt PM,Kluijtmans LAJ,Wevers RA,Verrips A

更新日期：2018-07-01 00:00:00

abstract：:One of the issues to be resolved in phenylketonuria is whether patients with mild hyperphenylalaninemia need treatment, or in other words, in what patients treatment needs to be started. Do patients need treatment when phenylalanine concentrations in blood are >360 μmol/L or >600 μmol/L? This paper reviews the literat...

journal_title：Journal of inherited metabolic disease

authors： van Spronsen FJ

更新日期：2011-06-01 00:00:00

abstract：:Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan inherited lysosomal storage disease and one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterised by intellectual regression, behavioural and sleep disturbances, loss of ambul...

journal_title：Journal of inherited metabolic disease

authors： Seker Yilmaz B,Davison J,Jones SA,Baruteau J

更新日期：2021-01-01 00:00:00

abstract：:Optimum conditions for assay of human plasma beta-mannosidase activity were determined. Maximum activity was observed at pH 3.0-3.4, the apparent Km was 0.9 mmol L-1 and enzymatic hydrolysis was linear for at least 60 min. Assays were performed on plasma from two siblings with the recently described condition beta-man...

journal_title：Journal of inherited metabolic disease

authors： Cooper A,Hatton C,Sardharwalla IB

更新日期：1987-01-01 00:00:00

abstract：:Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727+/-186 micromol/L (range 484-1,053). Six women had classic histidinaemia (assigned level >700 micromol/L) and the remaining four had mild (atypical) histidina...

journal_title：Journal of inherited metabolic disease

authors： Levy HL,Yu JJ,Waisbren SE

更新日期：2004-01-01 00:00:00

abstract：:Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly assoc...

journal_title：Journal of inherited metabolic disease

authors： Sharman R,Sullivan KA,Young RM,McGill JJ

更新日期：2010-12-01 00:00:00

abstract：:Studies on fibroblasts from patients with lactic acidosis of different causes showed secondary metabolic changes in pathways of glucose metabolism. These secondary changes may be important clues to the diagnosis of the many different types of hereditary lactic acidosis. ...

journal_title：Journal of inherited metabolic disease

authors： Borud O,Strømme JH

更新日期：1978-01-01 00:00:00

abstract：:L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat variable, but affected individual...

journal_title：Journal of inherited metabolic disease

authors： Sass JO,Jobard F,Topçu M,Mahfoud A,Werlé E,Cure S,Al-Sannaa N,Alshahwan SA,Bataillard M,Cimbalistiene L,Grolik C,Kemmerich V,Omran H,Sztriha L,Tabache M,Fischer J

更新日期：2008-12-01 00:00:00

abstract：:Cardiovascular lesions, including coronary artery stenosis, are frequently associated and can cause sudden death in patients with genetic defects of glycosaminoglycan (GAG) metabolism. Early diagnosis of coronary artery lesions is difficult, although potentially lifesaving. Histopathological similarities between ather...

journal_title：Journal of inherited metabolic disease

authors： Yano S,Moseley K,Wong L,Castelnovi C,Azen C,Pavlova Z

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVES:To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach. METHODS:An enzymatic-colorimetric assay was used for the screening of total galactose (TG) in a sample of 10...

journal_title：Journal of inherited metabolic disease

authors： Camelo JS Jr,Fernandes MI,Maciel LM,Scrideli CA,Santos JL,Camargo AS Jr,Passador CS,Leite PC,Resende DR,de Souza LO,Giugliani R,Jorge SM

更新日期：2009-12-01 00:00:00

abstract：:Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. Nearly 300 different mutations have been identified in the IDS gene from patients with Hunter disease, but the correlation between the genotype and phenotype ...

journal_title：Journal of inherited metabolic disease

authors： Sukegawa-Hayasaka K,Kato Z,Nakamura H,Tomatsu S,Fukao T,Kuwata K,Orii T,Kondo N

更新日期：2006-12-01 00:00:00

abstract：:Achieving the goals of newborn screening is, as for any screening, a balancing act: getting the maximum benefit from screening while producing the minimum harm. The advent of "expanded" newborn screening, with a large number of disorders detectable using a single test, has also posed problems, not new, but now more ob...

journal_title：Journal of inherited metabolic disease

authors： Wilcken B

更新日期：2010-10-01 00:00:00

abstract：:Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1 alpha, E1 beta or E2, of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, ge...

journal_title：Journal of inherited metabolic disease

authors： Mitsubuchi H,Matsuda I,Nobukuni Y,Heidenreich R,Indo Y,Endo F,Mallee J,Segal S

更新日期：1992-01-01 00:00:00

abstract：BACKGROUND:Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. ...

journal_title：Journal of inherited metabolic disease

authors： Mathis D,Abela L,Albersen M,Bürer C,Crowther L,Beese K,Hartmann H,Bok LA,Struys E,Papuc SM,Rauch A,Hersberger M,Verhoeven-Duif NM,Plecko B

更新日期：2016-09-01 00:00:00

abstract：BACKGROUND:A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospecti...

journal_title：Journal of inherited metabolic disease

authors： Palecek T,Honzikova J,Poupetova H,Vlaskova H,Kuchynka P,Golan L,Magage S,Linhart A

更新日期：2014-05-01 00:00:00

abstract：:Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay-Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r = 0.75, p less than 0.01). Compared to leukocy...

journal_title：Journal of inherited metabolic disease

authors： Buchalter MS,Wannmacher CM,Wajner M

更新日期：1984-01-01 00:00:00

abstract：:The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of beta-oxidation; (3) defects of the Krebs...

journal_title：Journal of inherited metabolic disease

authors： DiMauro S,Bonilla E,Zeviani M,Servidei S,DeVivo DC,Schon EA

更新日期：1987-01-01 00:00:00

abstract：:We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by anal...

journal_title：Journal of inherited metabolic disease

authors： Al-Sayed M,Alahmed S,Alsmadi O,Khalil H,Rashed MS,Imtiaz F,Meyer BF

更新日期：2005-01-01 00:00:00

abstract：:In this review, we describe transcranial electrical stimulation (tES) techniques currently being used in neuroscientific research, including transcranial direct current (tDCS), alternating current (tACS) and random noise (tRNS) stimulation techniques. We explain how these techniques are used and summarise the proposed...

journal_title：Journal of inherited metabolic disease

authors： Reed T,Cohen Kadosh R

更新日期：2018-07-13 00:00:00

abstract：:A brief outline of the known biochemical roles of manganese and chromium is given before the problems of determining human trace metal status are discussed. The factors predisposing to trace metal deficiency are reviewed but particular emphasis is placed upon those which alter the bioavailability of essential trace me...

journal_title：Journal of inherited metabolic disease

authors： Aggett PJ,Davies NT

更新日期：1983-01-01 00:00:00

abstract：:Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty-five different small mutations have been characterized. Small mutations in the Japanese population are widely distr...

journal_title：Journal of inherited metabolic disease

authors： Isogai K,Sukegawa K,Tomatsu S,Fukao T,Song XQ,Yamada Y,Fukuda S,Orii T,Kondo N

更新日期：1998-02-01 00:00:00

abstract：:Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

journal_title：Journal of inherited metabolic disease

authors： Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

更新日期：2005-01-01 00:00:00

abstract：:Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozyg...

journal_title：Journal of inherited metabolic disease

authors： Fairley C,Zimran A,Phillips M,Cizmarik M,Yee J,Weinreb N,Packman S

更新日期：2008-12-01 00:00:00

abstract：:Dopa decarboxylase (DDC or AADC) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes the decarboxylation of L-aromatic amino acids into the corresponding aromatic amines. AADC deficiency is an inborn error of neurotransmitters biosynthesis with an autosomal recessive inheritance. About 30 pathogenic muta...

journal_title：Journal of inherited metabolic disease

authors： Montioli R,Cellini B,Borri Voltattorni C

更新日期：2011-12-01 00:00:00

abstract：:Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of bioc...

journal_title：Journal of inherited metabolic disease

authors： Wood TC,Harvey K,Beck M,Burin MG,Chien YH,Church HJ,D'Almeida V,van Diggelen OP,Fietz M,Giugliani R,Harmatz P,Hawley SM,Hwu WL,Ketteridge D,Lukacs Z,Miller N,Pasquali M,Schenone A,Thompson JN,Tylee K,Yu C,Hendri

更新日期：2013-03-01 00:00:00

abstract：:NTBC is a triketone with herbicidal activity that has been shown to have a novel mode of action by inhibiting the enzyme 4-hydroxyphenylpyruvate dioxygenase in plants. Early studies on the toxicity of this compound found that rats treated with NTBC developed corneal lesions. Investigations aimed at understanding the m...

journal_title：Journal of inherited metabolic disease

authors： Lock EA,Ellis MK,Gaskin P,Robinson M,Auton TR,Provan WM,Smith LL,Prisbylla MP,Mutter LC,Lee DL

更新日期：1998-08-01 00:00:00

abstract：:The retinal and neurological complications of abetalipoproteinaemia may be preventable by replacing vitamins A and E from an early age, but their role in adult presentations is less clear. Two adult females with abetalipoproteinaemia have received 8 and 10 years respectively of replacement therapy with vitamins A, E a...

journal_title：Journal of inherited metabolic disease

authors： MacGilchrist AJ,Mills PR,Noble M,Foulds WS,Simpson JA,Watkinson G

更新日期：1988-01-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 4...

journal_title：Journal of inherited metabolic disease

authors： Claerhout H,Witters P,Régal L,Jansen K,Van Hoestenberghe MR,Breckpot J,Vermeersch P

更新日期：2018-01-01 00:00:00