当前位置： SCI文献检索 > JOURNAL OF INHERITED METABOLIC DISEASE期刊下所有文献 > Extracellular and cerebrospinal fluids.

Extracellular and cerebrospinal fluids.

Abstract：

:The mechanism of formation of extracellular fluid is first described, followed by an explanation of the relation between osmotic force, reflection coefficient and molecular size. The possible mechanism of brain extracellular fluid formation is then proposed in relation to the restriction offered by the blood-brain barrier. The functions and compositions of cerebrospinal fluid (CSF) are then described followed by sections on the process of formation of CSF, the non-electrolytes and proteins in CSF, the drainage mechanisms and protein synthesis by the choroid plexus.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Segal MB

doi

10.1007/BF00711896

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

617-38

issue

4

eissn

0141-8955

issn

1573-2665

journal_volume

16

pub_type

杂志文章,评审

相关文献

JOURNAL OF INHERITED METABOLIC DISEASE文献大全
  • Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

    abstract：:Employing lymphoblasts derived from two non related patients with L-2-HG aciduria, we examined the origin of L-2-hydroxyglutaric acid (L-2-HG) through incubation with [(13)C6]glucose and [(2)H5]glutamic acid. Formation of labelled 2-ketoglutaric acid (2-KG), citric acid and L-2-HG was determined by GC-MS. The quantita...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0697-5

    authors： Struys EA,Gibson KM,Jakobs C

    更新日期：2007-10-01 00:00:00

  • Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.

    abstract：:We report molecular analysis of thiamin-responsive pyruvate dehydrogenase complex (PDHC) deficiency in a patient with an X-linked form of Leigh syndrome. PDHC activity in cultured lymphoblastoid cells of this patient and his asymptomatic mother were normal in the presence of a high thiamin pyrophosphate (TPP) concentr...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005305614374

    authors： Naito E,Ito M,Yokota I,Saijo T,Matsuda J,Osaka H,Kimura S,Kuroda Y

    更新日期：1997-08-01 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

    doi：10.1023/a:1005635306257

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

    更新日期：1999-12-01 00:00:00

  • Transport and storage of metals.

    abstract：:Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01811317

    authors： Laurie SH

    更新日期：1983-01-01 00:00:00

  • Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

    abstract：:Carnitine palmitoyltransferase type II (CPT II) deficiency has three basic phenotypes, late-onset muscular (mild), infantile/juvenile hepatic (intermediate) and severe neonatal. We have measured fatty acid oxidation and CPT II activity and performed mutation studies in 24 symptomatic patients representing the full cli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1025947930752

    authors： Olpin SE,Afifi A,Clark S,Manning NJ,Bonham JR,Dalton A,Leonard JV,Land JM,Andresen BS,Morris AA,Muntoni F,Turnbull D,Pourfarzam M,Rahman S,Pollitt RJ

    更新日期：2003-01-01 00:00:00

  • Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation.

    abstract：:Recently, we reported that baicalein 5,6,7-trimethyl ether (BTM), a flavonoid, is capable of activating fatty acid beta-oxidation in X-linked adrenoleukodystrophy (X-ALD) fibroblasts (FEBS Lett. 2005; 579: 409-414). The objective of this study was to clarify whether BTM activates peroxisomal and/or mitochondrial fatty...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-008-0857-2

    authors： Morita M,Kanai M,Mizuno S,Iwashima M,Hayashi T,Shimozawa N,Suzuki Y,Imanaka T

    更新日期：2008-06-01 00:00:00

  • Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

    abstract：:Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity o...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-012-9459-0

    authors： Hendriksz CJ,Al-Jawad M,Berger KI,Hawley SM,Lawrence R,Mc Ardle C,Summers CG,Wright E,Braunlin E

    更新日期：2013-03-01 00:00:00

  • 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

  • Practical guide for morphometry of human peroxisomes on electron micrographs.

    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

    pub_type： 杂志文章,评审

    doi：10.1007/BF00711438

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

    更新日期：1995-01-01 00:00:00

  • Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

    abstract：BACKGROUND:Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiolo...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-016-9928-y

    authors： Huemer M,Carvalho DR,Brum JM,Ünal Ö,Coskun T,Weisfeld-Adams JD,Schrager NL,Scholl-Bürgi S,Schlune A,Donner MG,Hersberger M,Gemperle C,Riesner B,Ulmer H,Häberle J,Karall D

    更新日期：2016-05-01 00:00:00

  • Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.

    abstract：:In patients with cerebro-hepato-renal (Zellweger) syndrome, the absence of peroxisomes results in an impairment of metabolic processes in which peroxisomes are normally involved. These include the catabolism of very long chain (greater than C22) fatty acids, the biosynthesis of ether-phospholipids and of bile acids, t...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/BF01812845

    authors： Schutgens RB,Wanders RJ,Heymans HS,Schram AW,Tager JM,Schrakamp G,van den Bosch H

    更新日期：1987-01-01 00:00:00

  • Features of carnitine palmitoyltransferase type I deficiency.

    abstract：:Carnitine palmitoyltransferase type I (CPT I) is unique among long-chain fatty acid oxidation enzymes in that there are two tissue-specific isoforms, 'hepatic' and 'muscle', which are encoded by two separate genes. The 'hepatic' isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, whil...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005694320063

    authors： Olpin SE,Allen J,Bonham JR,Clark S,Clayton PT,Calvin J,Downing M,Ives K,Jones S,Manning NJ,Pollitt RJ,Standing SJ,Tanner MS

    更新日期：2001-02-01 00:00:00

  • Should transcobalamin deficiency be treated aggressively?

    abstract：:Transcobalamin (transcobalamin II, TC) transports plasma vitamin B(12) (cobalamin, Cbl) into cells. TC deficiency is a rare autosomal recessive disorder causing intracellular Cbl depletion, which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid, and methionine deple...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-010-9074-x

    authors： Schiff M,Ogier de Baulny H,Bard G,Barlogis V,Hamel C,Moat SJ,Odent S,Shortland G,Touati G,Giraudier S

    更新日期：2010-06-01 00:00:00

  • Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

    abstract：:We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both met...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-016-9980-7

    authors： Jansen EE,Vogel KR,Salomons GS,Pearl PL,Roullet JB,Gibson KM

    更新日期：2016-11-01 00:00:00

  • Abetalipoproteinaemia in adults: role of vitamin therapy.

    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

    pub_type： 杂志文章

    doi：10.1007/BF01799870

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

    更新日期：1988-01-01 00:00:00

  • Allergic disease as an association of steroid sulphatase deficiency.

    abstract：:Ten of 31 patients with steroid sulphatase (STS) deficiency were found to have an allergic disease (bronchial asthma, allergic rhinitis, or atopic dermatitis). STS deficiency may predispose patients to allergic disease. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005375902993

    authors： Sakura N,Nishimura S,Matsumoto T,Ohsaki M,Ogata T

    更新日期：1997-11-01 00:00:00

  • Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics.

    abstract：:Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were se...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/a:1005455401076

    authors： Ohura T,Abukawa D,Shiraishi H,Yamaguchi A,Arashima S,Hiyamuta S,Tada K,Iinuma K

    更新日期：1999-02-01 00:00:00

  • Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

    abstract：:Ultrastructural study of skin biopsies in two cases of Gaucher disease (GD) patients (types II and III) revealed hitherto unknown alteration of the blood capillary endothelial cells (ECs) featured by hypertrophy and numerous subplasmalemmal microvesicles underneath both the apical and basal membranes. There was also p...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-009-9018-5

    authors： Hůlková H,Poupetová H,Harzer K,Mistry P,Aerts JM,Elleder M

    更新日期：2010-02-01 00:00:00

  • Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

    abstract：:A patient with hyperuricaemia and gouty arthritis due to a new variant of hypoxanthine-guanine phosphoribosyltransferase is described. The mutation (I136T, HPRT Marseille) is in the phosphoribosylpyrophosphate-binding region of the gene and leads to almost total loss of enzyme activity in erythrocytes, with 5% in lymp...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1023/b:boli.0000037399.72152.a9

    authors： Dussol B,Ceballos-Picot I,Aral B,Castera V,Philip N,Berland Y

    更新日期：2004-01-01 00:00:00

  • Synaptic metabolism and brain circuitries in inborn errors of metabolism.

    abstract：: ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 社论

    doi：10.1007/s10545-018-00252-y

    authors： García-Cazorla À,Artuch R,Bayès À

    更新日期：2018-11-01 00:00:00

  • Pompe's disease in Chinese and prenatal diagnosis by determination of alpha-glucosidase activity.

    abstract：:We measured the activities of two major forms of alpha-glucosidase in lymphocytes and cultured fibroblasts from normal healthy controls and patients with Pompe's disease by using 4-methylumbelliferyl-alpha-D-glucoside as substrate. We found (1) enzyme activity of the pH 4 and pH 6 forms varied with age, and (2) patien...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799482

    authors： Lin CY,Hwang B,Hsiao KJ,Jin YR

    更新日期：1987-01-01 00:00:00

  • Recent advances in newborn screening.

    abstract：:The introduction of tandem mass spectrometry has unquestionably been the most striking recent advance in newborn screening. A single test is applied for the simultaneous diagnosis of a number of disorders, making it possible to screen for some disorders that might otherwise have seemed too rare. Current screening is f...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章,评审

    doi：10.1007/s10545-007-0538-6

    authors： Wilcken B

    更新日期：2007-04-01 00:00:00

  • Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

    abstract：:This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-005-4497-5

    authors： Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

    更新日期：2005-01-01 00:00:00

  • Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

    abstract：BACKGROUND:One major problem of using hypercholesterolaemia alone as a primary criterion for diagnosing familial hypercholesterolaemia (FH) is that 15-40% of relatives may be misdiagnosed because plasma lipid levels in FH heterozygotes overlap with those in the general population. SETTING:General Hospital/University o...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/s10545-007-0563-5

    authors： Widhalm K,Dirisamer A,Lindemayr A,Kostner G

    更新日期：2007-04-01 00:00:00

  • Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

    abstract：BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuro...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1002/jimd.12219

    authors： Claesen JLA,Koomen E,Schene IF,Jans JJM,Mast N,Pikuleva IA,van der Ham M,de Sain-van der Velden MGM,Fuchs SA

    更新日期：2020-07-01 00:00:00

  • Effect of methylmalonate on in vitro lactate release and carbon dioxide production by brain of suckling rats.

    abstract：:Methylmalonate (MMA) accumulates in the tissues of patients with methylmalonic acidaemia, who present severe neurological signs soon after birth and later mental retardation. Attempting to understand the pathophysiology of the disorder, we investigated the effects of MMA on brain glucose uptake, lactate release and CO...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01800350

    authors： Wajner M,Dutra JC,Cardoso SE,Wannmacher CM,Motta ER

    更新日期：1992-01-01 00:00:00

  • Continuous glucose monitoring in children with glycogen storage disease type I.

    abstract：:Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 临床试验,杂志文章

    doi：10.1023/a:1013996325720

    authors： Hershkovitz E,Rachmel A,Ben-Zaken H,Phillip M

    更新日期：2001-12-01 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

    doi：10.1023/a:1020108002877

    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

  • Congenital disorders of glycosylation (CDG): update and new developments.

    abstract：:After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the Australasian experience, on recent developments regarding congenital muscular dystrophies due to O-mannoslyglycan assembly defects, and on new presentations of CDG. ...

    journal_title：Journal of inherited metabolic disease

    pub_type： 共识发展会议,杂志文章,评审

    doi：10.1023/b:boli.0000031221.44647.9e

    authors： Jaeken J

    更新日期：2004-01-01 00:00:00

  • Stable-isotope selected-ion monitoring quantification of methylmalonic acid in dried filter-paper urine samples.

    abstract：:Urea and creatinine were measured by Kodak Ektachem methods and methylmalonic acid by stable-isotope gas chromatography-mass spectrometry in 24 urine samples from patients with methylmalonic acidaemia. For each sample analyses were performed both directly on the liquid urine and on an aliquot which had been blotted on...

    journal_title：Journal of inherited metabolic disease

    pub_type： 杂志文章

    doi：10.1007/BF01799839

    authors： Parnet JM,Divry P,Vianey-Saban C,Mathieu M

    更新日期：1996-01-01 00:00:00