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Lista de obras de Alfried Kohlschütter

A child with night blindness: preventing serious symptoms of Refsum disease.

artículo científico publicado en 2011

A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.

artículo científico publicado en 2003

A membrane fluidizing factor in sera from Duchenne muscular dystrophy patients: effect on lymphocyte membranes of incubation in patient and control lipoproteins

scientific article published on 01 June 1989

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

artículo científico publicado en 2006

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

artículo científico publicado en 2017

A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E

scientific article published on 01 January 1988

Alpha-tocopherol as a reductant for Cu(II) in human lipoproteins. Triggering role in the initiation of lipoprotein oxidation

artículo científico publicado en 1996

Alphafetoprotein in serum of pregnant women. A new assay and practical aspects in prenatal screening for fetal neural tube malformations (author's transl)

artículo científico publicado el 1 de abril de 1977

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease

artículo científico publicado en 2011

Antioxidant and prooxidant activity of alpha-tocopherol in human plasma and low density lipoprotein

artículo científico publicado en 1996

Antioxidative activity of ubiquinol-10 at physiologic concentrations in human low density lipoprotein.

artículo científico publicado en 1995

Asparagine concentration in plasma after 2,500 IU/m(2) PEG-asparaginase i.v. in children with acute lymphoblastic leukemia.

artículo científico publicado en 2005

Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families

artículo científico publicado en 1995

Autophagic vacuolar myopathy is a common feature of CLN3 disease

artículo científico publicado en 2018

Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): a word to pediatricians, neurologists, and ophthalmologists

artículo científico publicado en 1995

Biochemical diagnosis of glycogenosis type II (acid maltase deficiency) (author's transl)

artículo científico publicado el 1 de diciembre de 1977

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

artículo científico publicado en 2014

Bulbar palsy with Rosenthal fiber formation in the medulla of a 15-year-old girl. Localized form of Alexander's disease?

artículo científico publicado en 1981

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

artículo científico publicado en 2016

CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). A case report

artículo científico publicado en 1980

Cause of progression in Duchenne muscular dystrophy: impaired differentiation more probable than replicative aging

artículo científico publicado en 2001

Childhood leukodystrophies: a clinical perspective.

artículo científico

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine ⬇️

artículo científico publicado el 1 de septiembre de 1997

Comparison of four different phenylalanine determination methods

scientific article published on 01 August 1997

Computerized tomographic findings in a case of ataxia-telangiectasia (Louis-Bar syndrome)

artículo científico publicado en 1980

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

artículo científico publicado en 1987

Cumulative incidence rates of the mucopolysaccharidoses in Germany

scientific article published on 01 January 2005

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses

artículo científico publicado en 2019

Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

artículo científico publicado en 2005

Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis

artículo científico publicado en 1996

Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency

artículo científico publicado en 1993

Dementia in the neuronal ceroid-lipofuscinoses

artículo científico publicado en 2001

Deteriorating free radical-trapping capacity and antioxidant status in plasma during bone marrow transplantation

scientific article published on 01 May 1995

Dextran sulphate reduces diphenylhexatriene anisotropy in human peripheral blood lymphocytes: impact on plasma membrane fluidity and HIV-cytopathogenicity ⬇️

artículo científico publicado el 1 de noviembre de 1991

Dietary fish oil blocks the microcirculatory manifestations of ischemia-reperfusion injury in striated muscle in hamsters.

scientific article published on August 1991

Dietary fish oil reduces leukocyte/endothelium interaction following systemic administration of oxidatively modified low density lipoprotein

artículo científico publicado en 1991

Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study

artículo científico publicado en 2018

Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency

artículo científico publicado en 1997

Effects of membrane lipid and fluidity modifications on HIV-1 infectibility of primate lymphocytes in vitro.

artículo científico publicado en 1990

Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

artículo científico publicado en 2004

Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management

scientific article published on 01 June 1998

Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes

artículo científico publicado en 1988

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome

artículo científico publicado en 2012

Ethical issues with artificial nutrition of children with degenerative brain diseases.

artículo científico publicado en 2015

Evaluating experimental treatment of leukodystrophies

artículo científico publicado el 27 de junio de 2011

Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy.

artículo científico publicado en 1997

Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia

artículo científico publicado en 1974

Fingerprint profiles in lymphocytic vacuoles of mucopolysaccharidoses I-H, II, III-A, and III-B

artículo científico publicado en 1981

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

artículo científico publicado en 1999

Glyceroluria in healthy adults, mentally ill adults and children selected for metabolic screening.

artículo científico publicado en 1991

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency

artículo científico publicado en 1998

Herpes simplex causing a therapy-resistant panaritium (author's transl) ⬇️

artículo científico publicado el 20 de mayo de 1977

High-performance liquid chromatography-coulometric electrochemical detection of ubiquinol 10, ubiquinone 10, carotenoids, and tocopherols in neonatal plasma

artículo científico publicado en 1999

How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper

scientific article published on 01 January 1998

How different constituents of low density lipoprotein determine its oxidizability by copper: a correlational approach

scientific article published on 01 February 1996

Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency

artículo científico publicado en 1998

Hyperphosphatasia with mental retardation.

artículo científico publicado en 1988

Hypomyelinating leukodystrophies: translational research progress and prospects

artículo científico publicado en 2014

Identification of ten novel mutations in patients with eIF2B-related disorders

artículo científico publicado en 2005

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.

artículo científico publicado en 2011

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

artículo científico publicado en 2004

Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency

artículo científico publicado en 1993

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders

artículo científico publicado en 1992

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

scientific journal article

Increased plasma membrane fluidity and decreased receptor availability of nonmuscle cells in myotonic dystrophy

scientific article published on 01 September 1989

Infantile Cobalamin Deficiency with Cerebral Lactate Accumulation and Sustained Choline Depletion ⬇️

artículo científico publicado el 1 de junio de 2003

Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency

artículo científico publicado en 1982

Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.

artículo científico publicado en 1996

Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability

scientific article published on 01 November 1988

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

artículo científico publicado en 2014

Leukodystrophies: diseases of white matter of the nervous system

artículo científico publicado en 2007

Leukodystrophy incidence in Germany ⬇️

artículo científico publicado el 5 de septiembre de 1997

Localization of the giant axonal neuropathy gene to chromosome 16q24.

artículo científico publicado en 1998

Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?

artículo científico publicado en 2011

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: evidence of myelin recovery and ongoing brain maturation

scientific article published on 02 December 2011

Low density lipoprotein oxidizability by copper correlates to its initial ubiquinol-10 and polyunsaturated fatty acid content

artículo científico publicado en 1994

Low erythrocyte plasmalogen and plasma docosahexaenoic acid (DHA) in juvenile neuronal ceroid-lipofuscinosis (JNCL)

scientific article published on 01 January 1993

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.

artículo científico publicado en 2013

Membrane fluidity and lipid composition of rat small intestinal brush-border membranes during postnatal maturation

scientific article published on 01 March 1988

Membrane oxidation assay--a novel lipoxygenase-based evaluation of membrane oxidizability.

artículo científico publicado en 2003

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

artículo científico publicado en 1999

Metachromatic Leukodystrophy: An Assessment of Disease Burden

artículo científico publicado en 2016

Monitoring erythrocyte free radical resistance in neonatal blood microsamples using a peroxyl radical-mediated haemolysis test

scientific article published on 01 July 1998

Monitoring of ubiquinol-10, ubiquinone-10, carotenoids, and tocopherols in neonatal plasma microsamples using high-performance liquid chromatography with coulometric electrochemical detection

artículo científico publicado en 1995

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

artículo científico publicado en 2004

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

artículo científico publicado en 1998

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

artículo científico publicado en 2012

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

artículo científico publicado en 2004

Myelin basic protein in cerebrospinal fluid from children

artículo científico publicado el 13 de marzo de 1978

Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder

artículo científico publicado en 1987

NCL Disorders: Frequent Causes of Childhood Dementia

artículo científico

NCL diseases - clinical perspectives

artículo científico publicado en 2013

Neonatal blood plasma is less susceptible to oxidation than adult plasma owing to its higher content of bilirubin and lower content of oxidizable Fatty acids

artículo científico publicado en 2003

Normal brain maturation characterized with age-related T2 relaxation times: an attempt to develop a quantitative imaging measure for clinical use

artículo científico publicado en 2004

Novel morphological macular findings in juvenile CLN3 disease.

artículo científico publicado en 2015

Oxidatively modified human low-density lipoprotein stimulates leukocyte adherence to the microvascular endothelium in vivo

artículo científico publicado en 1991

Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

artículo científico publicado en 2014

Phenylalanine metabolites in phenylketonuria

scientific article published on 01 April 1990

Phospholipid composition of cultivated skin fibroblasts in Duchenne's muscular dystrophy

artículo científico publicado el 2 de agosto de 1976

Physical properties of oxidized lipoproteins.

artículo científico publicado en 1995

Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia.

artículo científico publicado en 2002

Plasma concentrations of phenyllactic acid in phenylketonuria.

artículo científico publicado en 1990

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1

artículo científico publicado en 1998

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: an interim report

artículo científico publicado en 1989

Progress in neuropathology of the neuronal ceroid lipofuscinoses

artículo científico publicado en 1999

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

artículo científico publicado en 2009

Pulmonary candidiasis treated with 5-fluorocytosine

artículo científico publicado en 1974

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

artículo científico publicado en 2009

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

artículo científico publicado en 2003

Rectal biopsy findings in infantile neuroaxonal dystrophy

artículo científico publicado en 1980

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases".

artículo científico publicado en 2015

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

artículo científico publicado en 2009

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

artículo científico publicado en 2003

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease

scientific article published on 01 March 2005

Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay

scientific article published on 01 January 2005

Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.

artículo científico publicado en 2007

Stimulation of leukocyte/endothelium interaction by oxidized low-density lipoprotein in hairless mice. Involvement of CD11b/CD18 adhesion receptor complex

scientific article published on 01 April 1993

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

artículo científico publicado en 2018

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

artículo científico publicado en 2002

The clinical presentation of organoacidopathies--when to investigate.

artículo científico publicado en 1983

The electrophoretic mobility test with myelin basic protein, binding of 125I-MBP to lymphocytes, and gel electrophoresis pattern of supernatant during incubation

scientific article published on 01 January 1980

The palmitic/stearic acid ratio (P/S) in amniotic fluid for the determination of fetal lung maturity. The advantages of a simplified analysis by gas-liquid chromatography (author's transl)

artículo científico publicado el 1 de octubre de 1977

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

artículo científico publicado en 2005

Thermostability of alpha-mannosidase in plasma from cystic fibrosis patients and carriers

artículo científico publicado en 1983

Towards quality assurance in the determination of lysosomal enzymes: a two-centre study

scientific article published on 01 January 2003

Towards understanding the neuronal ceroid lipofuscinoses.

scientific article published on 04 February 2009

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

artículo científico publicado en 2005

Ultrastructural Observations on the Retina in Type II Glycogenosis (Pompe’s disease) ⬇️

artículo científico publicado el 1 de enero de 1978

Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis

scientific article published on 01 March 1982

Unexplained loss of vision in a child: consider bilateral primary optic nerve sheath meningioma

artículo científico publicado en 2014

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease

scientific article published on 13 February 2019

Vitamin E and neurological problems in childhood: a curable neurodegenerative process

artículo científico publicado el 1 de julio de 1993

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression.

artículo científico publicado en 2016

Wheat kernel ingestion protects from progression of muscle weakness in mdx mice, an animal model of Duchenne muscular dystrophy.

artículo científico publicado en 1996

Whole plasma oxidation assay as a measure of lipoprotein oxidizability

scientific article published on 01 January 1997

[Acyltransferase and lysophospholipase activity of erythrocytes aged in vivo and in vitro]

artículo científico publicado en 1968

[Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law].

artículo científico publicado en 2005

[Juvenile neuronal ceroid lipofuscinosis: electro-ophthalmologic findings in heterozygotes]

artículo científico publicado en 1987

[Lysolecithin metabolism in erythrocyte membranes. Lysolecithin acylation and lysophospholipase in aging erythrocytes]

scientific article published on 01 August 1968

[Mechanism of degradation of myelin in subacute necrotizing encephalomyelopathy Leight (SNE)]

scientific article published on 01 May 1977

[Myelin basic protein in cerebrospinal fluid in neurosyphilis (author's transl)]

artículo científico publicado en 1980

[Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency]

scientific article published on 01 July 1989

[Rhegmatogenous retinal detachment in atrophia gyrata: pars plana vitrectomy with silicone oil instillation]

scientific article published on 01 December 1996

[Significance of early ophthalmologic detection of Fabry disease]

artículo científico publicado en 1984

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]

artículo científico publicado en 2006

“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia

scientific article published on 26 July 2012

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