当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.

The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.

Abstract：

:Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2-hexadecanoylamino-4-nitrophenyl-beta-D-galactopyranoside. The relative merits of the three diagnostic methods are discussed.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Besley GT

doi

10.1007/BF01805686

keywords:

subject

Has Abstract

pub_date

1978-01-01 00:00:00

pages

115-8

issue

3

eissn

0141-8955

issn

1573-2665

journal_volume

1

pub_type

杂志文章

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Secondary metabolic changes in fibroblasts from six patients with hereditary lactic acidosis.

    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

    pub_type： 杂志文章

    doi：10.1007/BF01805587

    authors： Borud O,Strømme JH

    更新日期：1978-01-01 00:00:00

  • Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

    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

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0081-2

    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

  • Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.

    abstract：:Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular genetic correlate in several ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-012-9513-y

    authors： Haack TB,Makowski C,Yao Y,Graf E,Hempel M,Wieland T,Tauer U,Ahting U,Mayr JA,Freisinger P,Yoshimatsu H,Inui K,Strom TM,Meitinger T,Yonezawa A,Prokisch H

    更新日期：2012-11-01 00:00:00

  • Molecular biology and gene therapy for glycogen storage disease type Ib.

    abstract：:Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the ubiquitously expressed glucose-6-phosphate (G6P) transporter (G6PT or SLC37A4). The primary function of G6PT is to translocate G6P from the cytoplasm into the lumen of the endoplasmic reticulum (ER). Inside the ER, G6P is hydrolyzed to glucose ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-018-0180-5

    authors： Chou JY,Cho JH,Kim GY,Mansfield BC

    更新日期：2018-11-01 00:00:00

  • A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

    abstract：:3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine metabolism. The disease is caused by mutations in the gene coding for 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL). To date 26 different mutations have been described. A (betaalpha)(8) TIM barrel...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-006-0138-x

    authors： Mir C,Lopez-Viñas E,Aledo R,Puisac B,Rizzo C,Dionisi-Vici C,Deodato F,Pié J,Gomez-Puertas P,Hegardt FG,Casals N

    更新日期：2006-02-01 00:00:00

  • A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    abstract：:Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9623-1

    authors： Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

    更新日期：2014-01-01 00:00:00

  • A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling.

    abstract：:A severely mentally retarded infant with congenital lactic acidosis due to pyruvate carboxylase deficiency is reported. The patient suffered from vomiting and convulsions soon after birth and developed severe mental and motor retardation at 3 months of age. The persistent elevation of pyruvate and lactate in both bloo...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800730

    authors： Tsuchiyama A,Oyanagi K,Hirano S,Tachi N,Sogawa H,Wagatsuma K,Nakao T,Tsugawa S,Kawamura Y

    更新日期：1983-01-01 00:00:00

  • Diagnosis and management of glutaric aciduria type I.

    abstract：:Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs b...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1005390105171

    authors： Barić I,Zschocke J,Christensen E,Duran M,Goodman SI,Leonard JV,Müller E,Morton DH,Superti-Furga A,Hoffmann GF

    更新日期：1998-06-01 00:00:00

  • Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

    abstract：:This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for 17 years. Before treatment, major findings were microcephaly, psychomotor retardation, episodic reduced consciousness, m...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005372730310

    authors： Fowler B,Schutgens RB,Rosenblatt DS,Smit GP,Lindemans J

    更新日期：1997-11-01 00:00:00

  • Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

    abstract：:We report a 5-year-old child carrying polymerase gamma (POLG1) mutations, but strikingly normal oxidative phosphorylation analysis in muscle, fibroblasts and liver. Mutations in POLG1 have so far been described in children with severe combined oxidative phosphorylation (OXPHOS) deficiencies and with the classical Alpe...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0871-4

    authors： de Vries MC,Rodenburg RJ,Morava E,Lammens M,van den Heuvel LP,Korenke GC,Smeitink JA

    更新日期：2008-12-01 00:00:00

  • The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

    abstract：:This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing som...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-9035-4

    authors： Broomfield AA,Chakrapani A,Wraith JE

    更新日期：2010-12-01 00:00:00

  • Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

    abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase and is characterized by external ophthalmoparesis, gastrointestinal dysmotility, leukoencephalopathy, and neuropathy. The availability of new therapeutic opt...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9332-6

    authors： Filosto M,Scarpelli M,Tonin P,Testi S,Cotelli MS,Rossi M,Salvi A,Grottolo A,Vielmi V,Todeschini A,Fabrizi GM,Padovani A,Tomelleri G

    更新日期：2011-12-01 00:00:00

  • Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.

    abstract：UNLABELLED:In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage from an AKU patient. An apparently normal anatomical location yi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9373-x

    authors： Chow WY,Taylor AM,Reid DG,Gallagher JA,Duer MJ

    更新日期：2011-12-01 00:00:00

  • Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx.

    abstract：:A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further inve...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-008-1004-9

    authors： Calvo PL,Pagliardini S,Baldi M,Pucci A,Sturiale L,Garozzo D,Vinciguerra T,Barbera C,Jaeken J

    更新日期：2008-12-01 00:00:00

  • Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

    abstract：:Mucolipidosis IV (ML IV) (McKusick 252650) is an autosomal recessive metabolic disorder that displays signs of both lipid and mucopolysaccharide (glycosaminoglycan) storage. It has been reported that fibroblasts from ML IV patients exhibit abnormally high synthesis of hyaluronic acid in culture. In our search for a bi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF00711589

    authors： Goldin E,Imai Y,Kaneski CR,Pentchev PG,Brady RO,Hascall VC

    更新日期：1994-01-01 00:00:00

  • Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects.

    abstract：:The glycine uptake in cultured fibroblasts was studied in three children with non-ketotic hyperglycinaemia, one child with D-glyceric acidaemia and hyperglycinaemia and in six normal children, using an improved assay system giving individual protein correction. It was shown that all hyperglycinaemic children had norma...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF02338974

    authors： Kølvraa S,Rosleff F,Brandt NJ

    更新日期：1983-01-01 00:00:00

  • Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.

    abstract：:We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced th...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-018-0153-8

    authors： Vogel KR,Ainslie GR,Walters DC,McConnell A,Dhamne SC,Rotenberg A,Roullet JB,Gibson KM

    更新日期：2018-07-01 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

    doi：10.1023/b:boli.0000005603.04633.21

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

    更新日期：2003-01-01 00:00:00

  • Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

    abstract：:In recent years tremendous progress has been made with respect to the enzymology of the mitochondrial fatty acid beta-oxidation machinery and defects therein. Firstly, a number of new mitochondrial beta-oxidation enzymes have been identified, including very-long-chain acyl-CoA dehydrogenase (VLCAD) and mitochondrial t...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1023/a:1005504223140

    authors： Wanders RJ,Vreken P,den Boer ME,Wijburg FA,van Gennip AH,IJlst L

    更新日期：1999-06-01 00:00:00

  • Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS).

    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

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9659-2

    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

  • A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

    abstract：:Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-1049-9

    authors： Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

    更新日期：2008-12-01 00:00:00

  • Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiency.

    abstract：:The extent of hydroxylation of proline in collagen synthesized and secreted into the culture medium by skin fibroblasts derived from a patient with prolidase deficiency has been examined and found to be normal. It would seem likely that to a considerable extent the urinary proline-containing dipeptides apparent in thi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800003

    authors： Royce PM,Danks DM

    更新日期：1982-01-01 00:00:00

  • Type I hereditary tyrosinaemia: presentation of 11 cases.

    abstract：:Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799947

    authors： Coşkun T,Ozalp I,Koçak N,Yüce A,Caglar M,Berger R

    更新日期：1991-01-01 00:00:00

  • Cystic fibrosis newborn screening: using experience to optimize the screening algorithm.

    abstract：:Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally available in the state of Massachusetts since 1999 using an immunoreactive trypsinogen (IRT)-DNA algorithm. Ideally, CF NBS is incorporated as part of an integr...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-010-9117-3

    authors： Hale JE,Parad RB,Dorkin HL,Gerstle R,Lapey A,O'Sullivan BP,Spencer T,Yee W,Comeau AM

    更新日期：2010-10-01 00:00:00

  • Retinitis pigmentosa in mevalonate kinase deficiency.

    abstract：:Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-0178-7

    authors： Balgobind B,Wittebol-Post D,Frenkel J

    更新日期：2005-01-01 00:00:00

  • Diagnosing mucopolysaccharidosis IVA.

    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

    pub_type： 杂志文章

    doi：10.1007/s10545-013-9587-1

    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

  • Glycogen storage disease type 1a in three siblings with the G270V mutation.

    abstract：:Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemi...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005445802822

    authors： Parvari R,Isam J,Moses SW

    更新日期：1999-04-01 00:00:00

  • Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

    abstract：:Carnitine transporter deficiency (CTD) and holocarboxylase synthetase deficiency (HLCSD) are frequent in The Faroe Islands compared to other areas, and treatment is available for both disorders. In order to evaluate the feasibility of neonatal screening in The Faroe Islands we studied detection in the neonatal period ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0527-9

    authors： Lund AM,Joensen F,Hougaard DM,Jensen LK,Christensen E,Christensen M,Nørgaard-Petersen B,Schwartz M,Skovby F

    更新日期：2007-06-01 00:00:00

  • Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

    abstract：:Hawkinsinuria is a rare disorder of tyrosine metabolism that can manifest with metabolic acidosis and growth arrest around the time of weaning off breast milk, typically followed by spontaneous resolution of symptoms around 1 year of age. The urinary metabolites hawkinsin, quinolacetic acid, and pyroglutamic acid can ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-016-9963-8

    authors： Gomez-Ospina N,Scott AI,Oh GJ,Potter D,Goel VV,Destino L,Baugh N,Enns GM,Niemi AK,Cowan TM

    更新日期：2016-11-01 00:00:00

  • Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.

    abstract：:We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in late-a...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-011-9307-7

    authors： Balwani M,Grace ME,Desnick RJ

    更新日期：2011-06-01 00:00:00