W. Lehnert

发表

Haemodialysis for metabolic decompensation in propionic acidaemia

J. Leonard, B. Roth, H. Skopnik, 1987, Journal of Inherited Metabolic Disease.

Screening in clinical trials

J. Sass, S. Pascoe-González, W. Lehnert, 2002, The Lancet.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

R. Wanders, M. Durán, J. Sass, 2003, American journal of human genetics.

Report 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH 2 Gene

R. Wanders, M. Durán, J. Sass, 2003 .

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

K. Gibson, D. Rabier, E. Christensen, 1997, Pediatrics.

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (γ-vinyl-GABA)

K. Gibson, D. Matern, R. Korinthenberg, 1996, Journal of Inherited Metabolic Disease.

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency

K. Gibson, L. Hagenfeldt, O. Eeg‐Olofsson, 1995, Journal of Inherited Metabolic Disease.

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

L. Bolund, P. Bross, T. Jensen, 1996, Pediatric Research.

Primary treatment of propionic acidemia complicated by acute thiamine deficiency.

D. Matern, M. Brandis, H. Seydewitz, 1996, The Journal of pediatrics.

Effects of secretin on extracellular amino acid concentrations in rat hippocampus

M. Gerlach, K. Hennighausen, D. van Calker, 2004, Journal of Neural Transmission.

Propionic acidaemia: clinical, biochemical and therapeutic aspects

T. Suormala, E. R. Baumgartner, W. Sperl, 2005, European Journal of Pediatrics.

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

K. Sartor, M. Leichsenring, H. Bremer, 1993, Pediatrics.

3-Hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured fibroblasts from patients with mevalonate kinase deficiency: differential response to lipid supplied by fetal bovine serum in tissue culture medium.

K. Gibson, W. Nyhan, G. Hoffmann, 1990, Journal of lipid research.

Cotinine excretion as a predictor of peak flow variability.

W. Karmaus, J. Kuehr, R. Meinert, 1998, American journal of respiratory and critical care medicine.

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

L. Bolund, P. Bross, T. Jensen, 1994, Journal of Inherited Metabolic Disease.

Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.

T. Suormala, R. Baumgartner, J. Geisert, 1982, Helvetica paediatrica acta.

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

K. Gempel, K. Gerbitz, M. Bauer, 2001, European Journal of Pediatrics.

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

A. Mégarbané, B. Andresen, J. Sass, 2008, Molecular genetics and metabolism.

Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.

A. Sewell, M. Heil, F. Podebrad, 2000, Journal of chromatography. B, Biomedical sciences and applications.

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

T. Suormala, E. R. Baumgartner, M. Durán, 1998, European Journal of Pediatrics.

A case of biotin-responsive 3-methylcrotonylglycin- and 3-hydroxyisovaleric aciduria

W. Lehnert, H. Niederhoff, H. Saule, 1979, European Journal of Pediatrics.

Selective Screening for Organic Acidurias in the Federal Republic of Germany

J. Kneer, W. Lehnert, H. Niederhoff, 1984 .

Long-term results of selective screening for inborn errors of metabolism

W. Lehnert, 2005, European Journal of Pediatrics.

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset

E. R. Baumgartner, W. Lehnert, H. Niederhoff, 1996, European Journal of Pediatrics.

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

U. Wendel, W. Lehnert, J. Scharf, 1985, European Journal of Pediatrics.

The influence of intravenous medium- and long-chain triglycerides and carnitine on the excretion of dicarboxylic acids.

Z. Akcetin, H. Böhles, W. Lehnert, 1987, JPEN. Journal of parenteral and enteral nutrition.

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

W Lehnert, M. Durán, E. Christensen, 1996, Neuropediatrics.

Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry

D. Hunkler, W. Lehnert, D. Hunkler, 1986, European Journal of Pediatrics.

Screening for inborn metabolic disorders by 1H-NMR spectrometry.

D. Hunkler, W. Lehnert, 1986, The Journal of pediatrics.

Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers

M. Kiessling, J. Uy,, N. Böhm, 1982, European Journal of Pediatrics.

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers

S. Lindenmaier, U. Wendel, N. Böhm, 1982, European Journal of Pediatrics.

Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy

A. Sewell, T. Fukao, N. Kondo, 1998, Journal of Inherited Metabolic Disease.

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection.

H. Bremer, W. Nyhan, F. Trefz, 1991, Clinica chimica acta; international journal of clinical chemistry.

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal

M. Durán, S. K. Wadman, K. Gibson, 1988, European Journal of Pediatrics.

823 3-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY: TWO DIFFERENT CLINICAL AND ENZYMATIC PHENOTYPES IN 3-METHYLGLUTACONIC ACIDURIA

M. Durán, K. Gibson, B. Robinson, 1985, Pediatric Research.

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

S. Grünert, J. Sass, K. Schwab, 2013, Journal of Diabetes & Metabolic Disorders.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

M. Leichsenring, J. Vockley, S. Grünert, 2012, Orphanet Journal of Rare Diseases.

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

U. Langenbeck, G. Hoffmann, P. Heidemann, 1982, European Journal of Pediatrics.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

L. Bolund, P. Bross, B. Andresen, 2008, Human Genetics.

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene

J. Vockley, A. Sewell, F. Zintl, 2003, Journal of Inherited Metabolic Disease.

Excretion of N-isovalerylglutamic acid in isovaleric acidemia.

W. Lehnert, 1981, Clinica chimica acta; international journal of clinical chemistry.

4-Hydroxyisovaleric acid: A new metabolite in isovaleric acidemia

W. Lehnert, H. Niederhoff, 1981, European Journal of Pediatrics.

Seven years of experience with selective screening for organic acidurias

W. Lehnert, H. Niederhoff, 1984, European Journal of Pediatrics.

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

K. Huoponen, V. Kučinskas, L. Cimbalistienė, 2010, Journal of Applied Genetics.

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long‐chain fatty acids in cultured fibroblasts

H. Ropers, B. Tönshoff, W. Lehnert, 1982, Clinical genetics.

Synthesis of 13C-labeled chenodeoxycholic, hyodeoxycholic, and ursodeoxycholic acids for the study of bile acid metabolism in liver disease.

S. Matern, H. Marschall, J. Sjövall, 1991, Clinica chimica acta; international journal of clinical chemistry.

Clinically asymptomatic glutaric aciduria type I in a 4 5/12-year-old girl with bilateral temporal arachnoid cysts

S. Razeghi, P. Hartmann, W. Lehnert, 1997, Journal of Inherited Metabolic Disease.

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency

M. Durán, E. Christensen, J. Leonard, 1995, Journal of Inherited Metabolic Disease.

Macrocephaly: an important indication for organic acid analysis

J. Valk, H. Bremer, E. Christensen, 1991, Journal of Inherited Metabolic Disease.

Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).

J. Sass, W. Lehnert, 2005, Medical hypotheses.

[The electroretinogram in retinitis pigmentosa after stimulation with light of high intensity].

W. Lehnert, 1963, Albrecht von Graefe's Archiv fur Ophthalmologie.

Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia

R. Urbanek, N. Böhm, W. Lehnert, 1978, European Journal of Pediatrics.

[Metabolic disorders of branched-chain amino acids: most common forms of organic aciduria in the neonatal period].

W. Sperl, W. Lehnert, 1990, Klinische Padiatrie.

The internal dose of passive smoking at home depends on the size of the dwelling.

W. Karmaus, J. Kuehr, R. Meinert, 1997, Environmental research.

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease

R. Santer, U. Wendel, J. Schaub, 1994, Journal of Inherited Metabolic Disease.

3-Hydroxyisoheptanoic acid: a new metabolite in isovaleric acidemia.

W. Lehnert, 1981, Clinica chimica acta; international journal of clinical chemistry.

[Special tactical procedure in the surgery of monstrous Spiegler tumors].

N. Sönnichsen, W. Lehnert, H. Winter, 1983, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

R. Wanders, M. Durán, L. Ijlst, 2002, American journal of human genetics.

3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign

K. Gibson, R. Ensenauer, M. Brandis, 2000, Journal of Inherited Metabolic Disease.

UvA-DARE ( Digital Academic Repository ) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH 2 gene

R. Wanders, M. Durán, J. Sass, 2003 .

L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease

J. Valk, H. Hartung, M. Durán, 1992, Annals of neurology.

Magnetic resonance imaging in juvenile Canavan disease

J. Hennig, O. Pryds, O. Henriksen, 1993, European Journal of Pediatrics.

l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

H. Hartung, M. Durán, F. Hanefeld, 1993, Journal of Inherited Metabolic Disease.

Long-term follow up of a new case of hawkinsinuria

U. Engelke, R. Wevers, W. Stögmann, 1999, European Journal of Pediatrics.

Derivate des Tetrahydro‐1.4‐äthano‐naphthalins aus β‐Amino‐säuren

W. Lehnert, H. Plieninger, D. Mangold, 1967 .

Metabolic cause of Reye-like syndrome.

L. Kozák, E. Hrabincová, D. Behúlová, 2001, Bratislavske lekarske listy.

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.

J. Hennig, T. Thiel, S. Stöckler‐Ipsiroglu, 2004, Molecular genetics and metabolism.

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency

T. Suormala, M. Durán, R. Fingerhut, 1999, European Journal of Pediatrics.

[Isovaleric acidemia in a small infant].

I. Witt, J. Limberg, W. Lehnert, 1977, Monatsschrift fur Kinderheilkunde.

The effect of intravenous l-carnitine on propionic acid excretion in acute propionic acidaemia

H. Böhles, W. Lehnert, 1984, European Journal of Pediatrics.

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome

R. Wanders, D. Matern, R. Ensenauer, 2003, European Journal of Pediatrics.

Clinical variability in 3‐hydroxy‐2‐methylbutyryl‐coa dehydrogenase deficiency

Ronald J A Wanders, R. Wanders, J. Ruiter, 2002, Annals of neurology.

Elevated excretion of N-acetylated branched-chain amino acids in maple syrup urine disease.

W. Lehnert, E. Werle, 1988, Clinica chimica acta; international journal of clinical chemistry.

UvA-DARE ( Digital Academic Repository ) 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in

R. Wanders, M. Durán, L. Ijlst, 2002 .

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochromec oxidase deficiency

W. Ruitenbeek, W. Lehnert, 1993, Journal of Inherited Metabolic Disease.

[Electro-oculographic studies on eye muscle functions].

W. Lehnert, W. Thieme, 1962, Albrecht von Graefe's Archiv fur Ophthalmologie.

In Vivo Magnetic Resonance Spectroscopy in a Patient with Creatine Deficiency Syndrome: New Aspects on Mechanism of Creatine Uptake in Brain and Muscle

T. Thiel, J. Hennig, R. Ensenauer, 2001 .

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

R. Wanders, M. Durán, J. Sass, 2003, American journal of human genetics.

Medium-Chain-Acyl-CoA-Dehydrogenase(MCAD)-Defekt: Akute zerebrale Episoden und nicht-ketotische Hypoglykämien bei Kindern

E. Mönch, W. Lehnert, K. V. Mühlendahl, 2008 .