E. Christensen

发表

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Morten Duno, E. Shoubridge, M. Duno, 2007, American journal of human genetics.

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

E. Christensen, J. Häberle, V. Klaus, 2009, Clinical genetics.

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

M. Schwartz, J. Vissing, M. Duno, 2007, Brain : a journal of neurology.

Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years.

S. Kolvraa, N. Gregersen, E. Christensen, 1997, Molecular pathology : MP.

A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

M. Schwartz, M. Duno, E. Christensen, 2007, Clinical genetics.

Variability of clinical presentation in fumarate hydratase deficiency.

E. Christensen, O. Elpeleg, N. Amir, 1992, The Journal of pediatrics.

Diagnosis and management of glutaric aciduria type I – revised recommendations

M. Durán, C. Greenberg, E. Christensen, 2011, Journal of Inherited Metabolic Disease.

Diagnosis and management of glutaric aciduria type I

D. Morton, M. Durán, E. Christensen, 1998, Journal of Inherited Metabolic Disease.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

M. Durán, R. Surtees, C. Greenberg, 2007, Journal of Inherited Metabolic Disease.

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

E. Holme, O. Hjalmarson, M. Schwartz, 2010, European Journal of Pediatrics.

Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome

E. Christensen, G. Malm, S. Marcus, 1993, Human mutation.

Evidence for genetic heterogeneity in D‐2‐hydroxyglutaric aciduria

B. Maranda, J. Abdenur, S. Korman, 2010, Human mutation.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

H. Mandel, A. Reuser, D. Bali, 2008, Molecular genetics and metabolism.

Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.

U. G. Jensen, B. No̸rgaard-Pedersen, E. Christensen, 2001, Clinical chemistry.

Hypertrichosis in patients with SURF1 mutations

M. Schwartz, E. Christensen, F. Wibrand, 2005, American journal of medical genetics. Part A.

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.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

B. Keyser, E. Christensen, A. Dickmanns, 2008, Human molecular genetics.

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Y. Anikster, A. Ribes, E. Christensen, 1995, American journal of human genetics.

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.

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

C. Greenberg, E. Christensen, A. Schulze, 2004, Journal of Inherited Metabolic Disease.

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

D. Hougaard, M. Schwartz, E. Christensen, 2007, Journal of Inherited Metabolic Disease.

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiency

P. Bross, B. Andresen, N. Gregersen, 2003, Human mutation.

Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system

E. Christensen, J. Vikre-Jørgensen, 1995, Journal of Inherited Metabolic Disease.

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

M. Schwartz, E. Christensen, J. Kraus, 2000, American journal of human genetics.

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations

M. Schwartz, J. Vissing, M. Duno, 2005, Annals of neurology.

Glutaric aciduria type I: unusual biochemical presentation.

A. Ribes, D. Millington, E. Christensen, 1992, The Journal of pediatrics.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

N. Marlow, W. Craigen, K. Mills, 2010, Brain : a journal of neurology.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH 7 A 1 deficiency )

N. Marlow, W. Craigen, K. Mills, 2010 .

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

L. D. Schroeder, R. Wanders, P. Bross, 2000, American journal of human genetics.

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

E. Holme, E. Christensen, G. Hagberg, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

DIAGNOSTIC AND THERAPEUTIC ASPECTS OF DIHYDROBIOPTERIN DEFICIENCY

E. Christensen, B. Beck, N. Brandt, 1983, Acta paediatrica Scandinavica.

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis

K. Davies, M. Schwartz, E. Christensen, 1986, Clinical genetics.

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.

Glutaric aciduria type I

H. Mandel, M. Berant, E. Christensen, 2004, Neuroradiology.

Brain CT features and a diagnostic pitfall

H. Mandel, M. Berant, E. Christensen, 1991 .

MCAD deficiency in Denmark.

D. Hougaard, B. No̸rgaard-Pedersen, P. Bross, 2012, Molecular genetics and metabolism.

Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease

E. Christensen, B. Beck, N. Brandt, 1981, Journal of Inherited Metabolic Disease.

Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine

A. Gerdes, E. Christensen, F. Güttler, 1988, European Journal of Pediatrics.

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

M. Duno, E. Ostergaard, E. Christensen, 2009, Journal of Inherited Metabolic Disease.

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

J. Reiss, E. Christensen, R. Mendel, 2001, American journal of human genetics.

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

M. Schwartz, E. Christensen, A. Superti-Furga, 1998, Human Genetics.

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

P. Vreken, M. Durán, E. Holme, 1999, Human Genetics.

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

P. Bross, M. Duno, E. Christensen, 2012, Journal of Inherited Metabolic Disease.

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

E. Christensen, J. Pedersen, B. Jacobsen, 1981, Clinica chimica acta; international journal of clinical chemistry.

Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.

R. Shalev, E. Christensen, O. Elpeleg, 1989, The Journal of pediatrics.

The molecular basis of aminoacylase 1 deficiency.

H. Omran, J. Sass, E. Christensen, 2011, Biochimica et biophysica acta.

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

J. Sass, E. Christensen, J. V. Van Hove, 2017, Molecular genetics and metabolism.

Calcium levulinate medication. A pitfall in the diagnosis of organic acidurias.

S. Kolvraa, N. Gregersen, E. Christensen, 1977, Clinica chimica acta; international journal of clinical chemistry.

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

J. Reiss, E. Christensen, G. Kurlemann, 1998, Human Genetics.

Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties

E. Christensen, K. Wulff, C. Dorche, 1993, European Journal of Pediatrics.

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

V. Ramesh, E. Christensen, O. Elpeleg, 1998, Molecular genetics and metabolism.

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.

S. Kolvraa, N. Gregersen, E. Christensen, 1982, Clinica chimica acta; international journal of clinical chemistry.

The occurrence of C6--C10-dicarboxylic acids in urine from patients and rats treated with dipropylacetate.

S. Kolvraa, N. Gregersen, P. Mortensen, 1980, Biochemical medicine.

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

K. Kawasaki, S. Minoshima, N. Shimizu, 2001, Human Genetics.

Riboflavin responsive glutaric aciduria type II.

E. Christensen, W. Rhead, N. Gregersen, 1990, Progress in clinical and biological research.

DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT

J. Collet, P. Divry, E. Christensen, 1983, Acta paediatrica Scandinavica.

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

L. Bolund, P. Bross, B. Andresen, 1991, Journal of Inherited Metabolic Disease.

In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia

S. Kolvraa, N. Gregersen, E. Christensen, 1984, Journal of Inherited Metabolic Disease.

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

L. Bolund, P. Bross, B. Andresen, 1991, Human Genetics.

Prenatal diagnosis of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

P. Bross, B. Andresen, S. Kolvraa, 1995, Prenatal diagnosis.

Glutaric Aciduria Type II: Evidence for a Defect Related to the Electron Transfer Flavoprotein or Its Dehydrogenase

S. Kolvraa, N. Gregersen, E. Christensen, 1984, Pediatric Research.

Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria.

E. Christensen, N. Brandt, Ernst Christensen, 1978, Clinica chimica acta; international journal of clinical chemistry.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

A. Ribes, B. Merinero, E. Christensen, 2004, Journal of Inherited Metabolic Disease.

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

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

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

F. Hanefeld, H. Bremer, C. Roe, 1991, Pediatrics.

DNA‐based prenatal diagnosis for severe and variant forms of multiple acyl‐CoA dehydrogenation deficiency

H. Mandel, B. Andresen, N. Gregersen, 2005, Prenatal diagnosis.

Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II

S. Kolvraa, N. Gregersen, E. Christensen, 1980, Journal of Inherited Metabolic Disease.

Glutaric aciduria type I

R. Shalev, E. Christensen, N. Amir, 1987, Neurology.

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria). Experience with diet, riboflavin, and GABA analogue.

E. Christensen, N. Brandt, K. Rasmussen, 1979, The Journal of pediatrics.

Glutaric aciduria in progressive choreo‐athetosis

E. Christensen, N. Brandt, K. Rasmussen, 1978, Clinical genetics.

Glutaric aciduria: clinical and laboratory findings in two brothers.

N. Gregersen, E. Christensen, N. Brandt, 1977, The Journal of pediatrics.

Significance of bound glutarate in the diagnosis of glutaric aciduria type I

A. Ribes, D. Millington, E. Christensen, 1992, Journal of Inherited Metabolic Disease.

ω-AMINOACIDURIA INDUCED BY γ-VINYL GABA

E. Christensen, N. Brandt, 1984, The Lancet.

Blood-brain barrier transport of amino acids in healthy controls and in patients with phenylketonuria

O. Paulson, G. Knudsen, S. Hasselbalch, 1995, Journal of Inherited Metabolic Disease.

Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy

P. Meikle, E. Christensen, J. Hopwood, 2004, Pediatrics.

A possible prenatal evaluation of renal function by amino acid analysis on fetal urine

E. Christensen, S. Lenz, T. Lund-Hansen, 1985, Prenatal diagnosis.

Inhibition of the Glycine Cleavage System: Hyperglycinemia and Hyperglycinuria Caused by Valproic Acid

E. Christensen, Per Brpbech Mortensen, Steen Kplvraa, 1980, Epilepsia.

NONKETOTIC HYPERGLYCINEMIA Clinical, Biochemical and Therapeutic Aspects

E. Christensen, N. Brandt, S. Kølvraa, 1979, Acta paediatrica Scandinavica.

Glutaric aciduria type I: Pathomechanisms of neurodegeneration

E. Christensen, C. Jakobs, T. Lücke, 1999, Journal of Inherited Metabolic Disease.

The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family

E. Christensen, C. Jakobs, T. Rosenberg, 1994, Journal of Inherited Metabolic Disease.

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids

R. Wanders, R. Schutgens, E. Christensen, 1997, Journal of Inherited Metabolic Disease.

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening

E. Christensen, F. Skovby, C. Jakobs, 1993, Journal of Inherited Metabolic Disease.

[Refsum's disease. Hereditary atactic polyneuritis].

E. Christensen, T. Rosenberg, N. Brandt, 1989, Ugeskrift for laeger.

Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

B. Poll-The, A. Poulos, E. Christensen, 1986, European Journal of Pediatrics.

A new peroxisomal disorder: Di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

R. Wanders, R. Schutgens, E. Christensen, 1990, Journal of Inherited Metabolic Disease.

Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening.

H. J. Brink, E. Christensen, C. Jakobs, 1993, Clinical chemistry.

Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi

J. Philip, E. Christensen, N. Brandt, 1985, Prenatal diagnosis.

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

R. Sachidanandam, A. Krainer, R. Wanders, 2006, Human Genetics.

Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase

R. Carrozzo, E. Christensen, K. Orii, 2007, Journal of Inherited Metabolic Disease.

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.

M. Schwartz, J. Vissing, E. Christensen, 2007, Archives of neurology.

Heterogeneity in di/Trihydroxycholestanoic Acidaemia

R. Wanders, E. Christensen, C. Jakobs, 1994, Annals of clinical biochemistry.

Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus

E. Christensen, N. Brandt, 1978, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1‐phosphate uridyl transferase locus

E. Christensen, P. Benson, N. Brandt, 1979, Clinical genetics.

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

M. Duno, E. Christensen, F. Skovby, 2007, Journal of Inherited Metabolic Disease.

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Flemming Skovby, Arieh Cohen, Kristin Skogstrand, 2012, Molecular genetics and metabolism.

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.

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

M. Orozco, J. Gelpí, A. Ribes, 2000, Pediatric Research.

A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.

E. Christensen, 1993, Clinica chimica acta; international journal of clinical chemistry.

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II

E. Christensen, O. Clemmensen, S. Pasternack, 2009, The British journal of dermatology.

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

K. Kavanagh, W. Yue, U. Oppermann, 2013, Journal of Inherited Metabolic Disease.

Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria

E. Christensen, O. Elpeleg, D. Branski, 1990, European Journal of Pediatrics.

Omega-aminoaciduria induced by gamma-vinyl GABA.

E. Christensen, N. Brandt, 1984, Lancet.

D-Glyceric-Acidaemia in Non-Ketotic Hyperglycinaemia: A New Inborn Error of Metabolism

S. Kolvraa, E. Christensen, N. Brandt, 1977, Annals of clinical biochemistry.

D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)

J. Sass, E. Christensen, Raymond Y. Wang, 2010, Human mutation.

Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia

N. Gregersen, E. Christensen, K. Rasmussen, 1980, Journal of Inherited Metabolic Disease.

Glutaric aciduria in two brothers

E. Christensen, N. Brandt, K. Rasmussen, 1978, Journal of Inherited Metabolic Disease.

of glutaryl-CoA dehydrogenase (glutaric aciduria) Experience with diet, riboflavin, and GABA analogue

E. Christensen, N. Brandt, K. Rasmussen, 1979 .

Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material

M. Rolland, P. Divry, E. Christensen, 1986, European Journal of Pediatrics.

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

D. Hougaard, B. Andresen, N. Gregersen, 2012, JIMD reports.

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

M. Schwartz, E. Christensen, Z. Lukacs, 2003, Journal of Inherited Metabolic Disease.

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

H. Leffers, M. Durán, M. Schwartz, 1997, Journal of Inherited Metabolic Disease.

Glutaryl‐CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

M. Schwartz, C. Greenberg, E. Christensen, 1998, Human mutation.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

P. Chakraborty, O. Al-Dirbashi, L. Fisher, 2011, 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.

Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity

A. Ribes, M. Pineda, E. Christensen, 1998, Developmental Medicine & Child Neurology.

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

H. Mandel, Y. Anikster, E. Christensen, 1996, American journal of human genetics.

Macrocephaly: an important indication for organic acid analysis

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

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

A. Ribes, E. Christensen, M. Vilaseca, 1998, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of glutaryl‐CoA dehydrogenase deficiency: Experience using first‐trimester chorionic villus sampling

E. Christensen, 1994, Prenatal diagnosis.

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset

E. Christensen, J. Häberle, E. Schmidt, 2003, Human mutation.

Riboflavin Responsive Multiple Acyl‐CoA Dehydrogenation Deficiency

E. Christensen, M. F. Christensen, S. Kølvraa, 1986, Acta paediatrica Scandinavica.

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

R. Rozen, C. Morel, E. Christensen, 2005, Molecular genetics and metabolism.

Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.

E. Christensen, N. Brandt, 1985, The New England journal of medicine.

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

J. Vissing, M. Duno, E. Christensen, 2013, Neurology.

Glutaric aciduria type III: A distinctive non-disease?

W. Rascher, I. Knerr, E. Christensen, 2002, Journal of Inherited Metabolic Disease.

ETHE1 mutations are specific to ethylmalonic encephalopathy

E. Papaleo, V. Tiranti, M. Zeviani, 2005, Journal of Medical Genetics.

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

W. Gahl, Y. Anikster, E. Christensen, 2002, Molecular genetics and metabolism.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Studies on pyruvate carboxylase from cultured human fibroblasts and amniotic fluid cells

E. Christensen, T. L. Hansen, 1979, Journal of Inherited Metabolic Disease.

Magnetic resonance imaging in juvenile Canavan disease

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

Nerve cell lesions caused by 3-hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

E. Christensen, T. Deufel, R. Fingerhut, 1997, Journal of Inherited Metabolic Disease.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

E. Christensen, M. S. van der Knaap, D. Sie, 2013, Journal of Medical Genetics.

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

M. Knaap, K. Gibson, S. Korman, 2009, Journal of Inherited Metabolic Disease.

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation

P. Vreken, A. V. van Kuilenburg, E. Christensen, 1998, Journal of Inherited Metabolic Disease.

Molybdenum cofactor deficiency: first prenatal genetic analysis

J. Reiss, E. Christensen, C. Dorche, 1999 .

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

M. Duno, E. Ostergaard, E. Christensen, 2013, JIMD reports.

Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.

E. Christensen, Ernst Christensen, 1983, Clinica chimica acta; international journal of clinical chemistry.

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder

S. Ferdinandusse, E. Christensen, R. Wanders, 2004, Neurology.

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

M. Schwartz, E. Christensen, M. Kirchhoff, 2009, Clinical genetics.

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

R. Wanders, B. Andresen, N. Gregersen, 2006, Pediatric Research.

Citrullinaemia: The possibility of prenatal diagnosis

E. Christensen, J. Philip, N. Kennaway, 1980, Journal of Inherited Metabolic Disease.

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not

E. Christensen, M. Khayat, T. Falik-Zaccai, 2010, European Journal of Pediatrics.

[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].

E. Christensen, A. Lund, A. Bygum, 2008, Ugeskrift for laeger.

PROLIDASE DEFICIENCY

E. Christensen, N. Brandt, P. S. Pedersen, 1983, Acta paediatrica Scandinavica.

Molybdenum cofactor deficiency: first prenatal genetic analysis

J. Reiss, E. Christensen, C. Dorche, 1999, Prenatal diagnosis.

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.

H. Schmalbruch, E. Christensen, Z. Kamieniecka, 1993, Journal of Inherited Metabolic Disease.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

E. Christensen, A. Lund, F. Skovby, 2010, Journal of Inherited Metabolic Disease.