Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.




J Inherit Metab Dis


Brooks ED,Kishnani PS,Koeberl DD





2018-11-01 00:00:00














  • From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.

    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

    pub_type: 杂志文章,评审


    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

  • Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

    abstract::Defects of the mitochondrial oxidative phosphorylation (OXPHOS) system are frequent causes of neurological disorders in children. Linkage analysis and DNA sequencing identified a new founder p.G250V substitution in the C20ORF7 complex I chaperone in five Ashkenazi Jewish patients from two families with a combined OXPH...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Saada A,Edvardson S,Shaag A,Chung WK,Segel R,Miller C,Jalas C,Elpeleg O

    更新日期:2012-01-01 00:00:00

  • Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.

    abstract:AIM:This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country. PATIENTS AND METHODS:24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, pl...

    journal_title:Journal of inherited metabolic disease

    pub_type: 临床试验,杂志文章


    authors: Grigorescu Sido P,Drugan C,Cret V,Al-Kzouz C,Denes C,Coldea C,Zimmermann A

    更新日期:2007-10-01 00:00:00

  • Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

    abstract::Glycine encephalopathy, or nonketotic hyperglycinaemia (NKH; Mckusick 238300) is a severe autosomal recessive disease due to a defect in the glycine cleavage system (GCS), which is a complex of four subunits: P-, T-, H- and L-proteins. A P-protein (glycine decarboxylase or GLDC) deficiency was reported in about 80% of...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Conter C,Rolland MO,Cheillan D,Bonnet V,Maire I,Froissart R

    更新日期:2006-02-01 00:00:00

  • Isolated sulfite oxidase deficiency.

    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

    pub_type: 杂志文章,评审


    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

  • Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

    abstract::Mutations in β-glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non-N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes. This study a...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Barrett MJ,Giraldo P,Capablo JL,Alfonso P,Irun P,Garcia-Rodriguez B,Pocovi M,Pastores GM

    更新日期:2013-05-01 00:00:00

  • Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

    abstract:OBJECTIVE:To analyse diagnostic value of somato-sensory evoked potentials (SEP), magnetic resonance imaging (MRI), and clinical neurological examination in the decision for decompression surgery in mucopolysaccharidosis (MPS) VI patients with craniocervical cord compression (CCJ). METHODS:We retrospectively analysed n...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Lampe C,Lampe C,Schwarz M,Müller-Forell W,Harmatz P,Mengel E

    更新日期:2013-11-01 00:00:00

  • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

    abstract::A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

    更新日期:2002-09-01 00:00:00

  • The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

    abstract:BACKGROUND:Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Vernooij-van Langen AM,Loeber JG,Elvers B,Triepels RH,Roefs J,Gille JJ,Reijntjens S,Dompeling E,Dankert-Roelse JE

    更新日期:2013-01-01 00:00:00

  • Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

    abstract::Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries pr...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Ghiasvand NM,Aledavood A,Ghiasvand R,Seyedin Borojeny F,Aledavood AR,Seyed S,Miner W,Saeb Taheri GR

    更新日期:2009-12-01 00:00:00

  • Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.

    abstract::Tandem mass spectrometry (MS/MS) is a highly sensitive and specific technique. Thanks to the development of triple quadrupole analyzers, it is becoming more widely used in laboratories working in the field of inborn errors of metabolism. We review here the state of the art of this technique applied to the diagnosis of...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Piraud M,Pettazzoni M,Lavoie P,Ruet S,Pagan C,Cheillan D,Latour P,Vianey-Saban C,Auray-Blais C,Froissart R

    更新日期:2018-05-01 00:00:00

  • Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

    abstract:BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

    更新日期:2015-09-01 00:00:00

  • Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

    abstract::The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Haas D,Niklowitz P,Hörster F,Baumgartner ER,Prasad C,Rodenburg RJ,Hoffmann GF,Menke T,Okun JG

    更新日期:2009-08-01 00:00:00

  • International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

    abstract::Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

    更新日期:2021-01-01 00:00:00

  • Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.

    abstract::Acute intermittent porphyria (AIP) caused by mutations in the hydroxymethylbilane synthase gene (HMBS), has been reported in almost all human populations, with varying frequencies. A founder effect for a few specific mutations in geographic regions where prevalence is high (Sweden, The Netherlands, Switzerland) has be...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Paradisi I,Arias S

    更新日期:2010-12-01 00:00:00

  • Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

    abstract::A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malo...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: O'Brien DP,Barshop BA,Faunt KK,Johnson GC,Gibson KM,Shelton GD

    更新日期:1999-12-01 00:00:00

  • Assessing the severity of the small inframe deletion mutation in the alpha-subunit of beta-hexosaminidase A found in the Turkish population by reproducing it in the more stable beta-subunit.

    abstract::GM(2) gangliosidoses are a group of panethnic lysosomal storage diseases in which GM(2) ganglioside accumulates in the lysosome due to a defect in one of three genes, two of which encode the alpha- or beta-subunits of beta- N -acetylhexosaminidase (Hex) A. A small inframe deletion mutation in the catalytic domain of t...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Sinici I,Tropak MB,Mahuran DJ,Ozkara HA

    更新日期:2004-01-01 00:00:00

  • Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review.

    abstract::Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% o...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Francisco R,Pascoal C,Marques-da-Silva D,Morava E,Gole GA,Coman D,Jaeken J,Dos Reis Ferreira V

    更新日期:2019-01-01 00:00:00

  • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

    abstract::In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Loeber JG,Burgard P,Cornel MC,Rigter T,Weinreich SS,Rupp K,Hoffmann GF,Vittozzi L

    更新日期:2012-07-01 00:00:00

  • The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update.

    abstract::A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Michelakakis H,Dimitriou E,Labadaridis I

    更新日期:2004-01-01 00:00:00

  • 3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

    abstract::We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC acid excretio...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Law LK,Tang NL,Hui J,Lam CW,Fok TF

    更新日期:2003-01-01 00:00:00

  • Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

    abstract::Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases ar...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Maire I

    更新日期:2001-01-01 00:00:00

  • Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.

    abstract:BACKGROUND:Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages over traditional medium-chain triglyceride (MCT) treatment of long-chain fatty acid oxidation disorders (LC-FAODs) but controlled trials have not been reported. Th...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,随机对照试验


    authors: Gillingham MB,Heitner SB,Martin J,Rose S,Goldstein A,El-Gharbawy AH,Deward S,Lasarev MR,Pollaro J,DeLany JP,Burchill LJ,Goodpaster B,Shoemaker J,Matern D,Harding CO,Vockley J

    更新日期:2017-11-01 00:00:00

  • Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies.

    abstract::Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder resulting from the inability to metabolize sulphatide, an important component of myelin. Although there is significant clinical variability between patients, most have the late-infantile form. It is one of the most common lysosomal disorders involvi...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Pastor-Soler NM,Schertz EM,Rafi MA,de Gala G,Wenger DA

    更新日期:1995-01-01 00:00:00

  • A fluorimetric assay for succinic semialdehyde dehydrogenase activity suitable for prenatal diagnosis of the enzyme deficiency.

    abstract::Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiency of SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a simple fluorimetric assay for the enzyme and applied it to measurement ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Thorburn DR,Thompson GN,Howells DW

    更新日期:1993-01-01 00:00:00

  • Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

    abstract::Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 o...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Park H,Rossiter M,Fensom AH,Winchester B,Aronson NN Jr

    更新日期:1996-01-01 00:00:00

  • Menkes disease: underlying genetic defect and new diagnostic possibilities.

    abstract::Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Tümer Z,Horn N

    更新日期:1998-08-01 00:00:00

  • Cobalamin C defect: natural history, pathophysiology, and treatment.

    abstract::Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active forms, methylcobalamin and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synt...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Martinelli D,Deodato F,Dionisi-Vici C

    更新日期:2011-02-01 00:00:00

  • Pattern reversal visual evoked potentials in phenylketonuria.

    abstract::The pathogenesis of brain dysfunction in phenylketonuria (PKU) is still under investigation. Hyperphenylalaninaemia results in increased turnover of myelin. In order to demonstrate the derangement of myelinization in PKU we studied the visual evoked potentials (VEP) in 14 PKU patients and in 20 normal subjects. VEP fi...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Giovannini M,Valsasina R,Villani R,Ducati A,Riva E,Landi A,Longhi R

    更新日期:1988-01-01 00:00:00

  • Positive newborn screen in the biochemically normal infant of a mother with treated holocarboxylase synthetase deficiency.

    abstract::Expanded programmes of newborn screening permit early diagnosis in time to prevent serious complications. These programmes have begun to detect patients who might otherwise remain asymptomatic. An additional confounding variable is the positive screen that results from maternal rather than neonatal disease. This was t...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Nyhan WL,Willis M,Barshop BA,Gangoiti J

    更新日期:2009-12-01 00:00:00