N. Brandt

发表

Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.

M. Schwartz, H. Johansen, C. Koch, 1990, Human genetics.

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.

[Neonatal screening in Denmark. Status and future perspectives].

B. No̸rgaard-Pedersen, N. Brandt, H. Simonsen, 1998, Ugeskrift for laeger.

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.

Investigations of coagulation and fibrinolysis in homocystinuria.

I. Nilsson, N. Brandt, F. Schønheyder, 2009, Acta medica Scandinavica.

GALACTOSAEMIA LOCUS AND THE DOWN'S SYNDROME CHROMOSOME.

M. Mikkelsen, A. Fro̸land, N. Brandt, 1963, Lancet.

C6—C10-Dicarboxylic Aciduria: Investigations of a Patient with Riboflavin Responsive Multiple Acyl-CoA Dehydrogenation Defects

N. Gregersen, M. F. Christensen, N. Brandt, 1982, Pediatric Research.

High incidence of cystic fibrosis on The Faroe Islands: a molecular and genealogical study

M. Schwartz, E. Høgdall, N. Sørensen, 1995, Human Genetics.

DIAGNOSTIC AND THERAPEUTIC ASPECTS OF DIHYDROBIOPTERIN DEFICIENCY

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

Neonatal mass screening for metabolic disorders

O. Giardini, C. Bachmann, G. Hammersen, 1981, European Journal of Pediatrics.

MCAD deficiency in Denmark.

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

Ketotic Episodes in Glutaryl-CoA Dehydrogenase Deficiency (Glutaric Aciduria)

N. Gregersen, N. Brandt, 1979, Pediatric Research.

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

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

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.

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.

Problems in the Diagnosis of Hereditary Galactosaemia

N. Brandt, N. Tolstrup, N. J. Brandt, 1967 .

Symptoms and signs in organic acidurias

N. Brandt, 1984, Journal of Inherited Metabolic Disease.

[Prenatal diagnosis of hemophilia].

M. Schwartz, L. Holmberg, N. Brandt, 1979, Ugeskrift for laeger.

METHYLDOPA AND HÆMOLYTIC ANÆMIA

N. Brandt, J. Lund, Brandt Nj, 1966 .

Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia.

S. Kolvraa, N. Gregersen, N. Brandt, 1980, Clinica chimica acta; international journal of clinical chemistry.

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.

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.

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.

Disaccharidase deficiency in amniotic fluid from cases of cystic fibrosis

N. Brandt, M. Schwartz, 1985, Prenatal diagnosis.

[Cryptococcal meningitis treated with amphotericin B; report of a case in a patient with histologically confirmed Boeck's sarcoidosis].

N. Brandt, H. Sturup, 1959, Ugeskrift for laeger.

ω-AMINOACIDURIA INDUCED BY γ-VINYL GABA

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

Methyldopa and hemolytic anaemia.

N. Brandt, J. Lund, 1966, Lancet.

METHYLDOPA AND HÆMOLYTIC ANÆMIA

N. Brandt, J. Lund, 1966 .

Normal glycine transport in cultured diploid fibroblasts from hyperglycinaemic subjects

S. Kolvraa, N. Brandt, F. Rosleff, 1983, Journal of Inherited Metabolic Disease.

NONKETOTIC HYPERGLYCINEMIA Clinical, Biochemical and Therapeutic Aspects

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

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.

[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.

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.

Psychological and social impact of carrier screening for cystic fibrosis among pregnant women — a pilot study

M. Schwartz, F. Skovby, N. Brandt, 1996, Clinical genetics.

Heterogeneity in di/Trihydroxycholestanoic Acidaemia

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

Nation-wide TSH-screening with low recall rate. Laboratory results of a two-year study.

S. Sørensen, B. Jacobsen, N. Brandt, 1982, Scandinavian journal of clinical and laboratory investigation.

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.

Screening for Carriers of Cystic Fibrosis among Pregnant Women: A Pilot Study

M. Schwartz, F. Skovby, N. Brandt, 1993, European journal of human genetics : EJHG.

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.

Congenital hypothyroidism in Denmark.

B. Jacobsen, N. Brandt, 1981, Archives of disease in childhood.

[A case of homocystinuria].

F. Quaade, N. Brandt, F. Schønheyder, 1972, Ugeskrift for laeger.

Controlled trial of oral contraceptives in haemophilia.

N. Brandt, J. Cohn, M. Hilden, 2009, Scandinavian journal of haematology.

Atypical pyruvate kinase in a patient with haemolytic anaemia.

N. Brandt, H. Hanel, 2009, Scandinavian journal of haematology.

Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius - the TAR syndrome.

N. Brandt, J. Cohn, S. Edelberg, 1977, Human heredity.

ABO and Rh phenotyping of foetal blood obtained by foetoscopy

J. Philip, N. Brandt, E. Freiesleben, 1978, Clinical genetics.

GENES ON THE MONGOL CHROMOSOME

S. Lawler, N. Brandt, 1962 .

HEPATIC DYSFUNCTION IN PATIENT WITH FETAL ALCOHOL SYNDROME

N. Brandt, I. Tygstrup, J. Møller, 1979, The Lancet.

[Fetal alcohol syndrome].

N. Brandt, J. Møller, 1978, Ugeskrift for læger.

CONGENITAL PRIMARY HYPOTHYROIDISM AND HLA

A. Svejgaard, N. Brandt, B. Jacobsen, 1982, Acta paediatrica Scandinavica.

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

E. Schwinger, J. Hopwood, A. Gal, 1993, Human Genetics.

d‐GLYCERIC‐ACIDAEMIA AND NON‐KETOTIC HYPERGLYCINEMIA

N. Brandt, K. Rasmussen, S. Kølvraa, 1976 .

D-Glyceric Acidemia: Biochemical Studies of a New Syndrome

S. Kolvraa, N. Brandt, K. Rasmussen, 1976, Pediatric Research.

Omega-aminoaciduria induced by gamma-vinyl GABA.

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

Studies of the Glycine Metabolism in a Patient with D-Glyceric Acidemia and Hyperglycinemia

S. Kolvraa, N. Brandt, E. Chrstensen, 1980, Pediatric Research.

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-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome.

S. Kolvraa, N. Brandt, K. Rasmussen, 1976, Acta paediatrica Scandinavica.

Glutaric aciduria in two brothers

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

STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

N. Brandt, T. L. Hansen, E. Christensen, 1982, Acta paediatrica Scandinavica.

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

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

Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism.

N. Brandt, K. Rasmussen, S. Brandt, 1974, British medical journal.

HÆMOLYTIC ANÆMIA DUE TO ABNORMAL PYRUVATE KINASE

N. Brandt, H. Hanel, 1968 .

THYROXINE‐BINDING GLOBULIN DEFICIENCY IN EARLY CHILDHOOD

B. Jacobsen, N. Brandt, L. Hummer, 1981 .

A deleted B chromosome in a mosaic mother and her cri du chat progeny.

J. Philip, B. Friis‐Hansen, M. Mikkelsen, 1970, Journal of medical genetics.

How long should galactosaemia be treated

N. Brandt, 1980 .

Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.

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

Frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Denmark

M. Schwartz, H. Johansen, C. Koch, 1990, Human Genetics.

BONE MINERAL CONTENT DURING PREGNANCY IN EPILEPTICS ON ANTICONVULSANT DRUGS AND IN THEIR NEWBORNS

C. Christiansen, F. Ebbesen, N. Brandt, 1981, Acta obstetricia et gynecologica Scandinavica.

FALSE-NEGATIVE RESULTS WITH METHYLUMBELLIFERYLGUANIDINOBENZOATE REACTIVE PROTEASES IN CYSTIC FIBROSIS PREGNANCIES

M. Schwartz, N. Brandt, 1981, The Lancet.

Hyper-endorphin syndrome in a child with necrotizing encephalomyelopathy.

L. Terenius, L. Klinken, B. Jacobsen, 1980, The New England journal of medicine.

Citrullinaemia: The possibility of prenatal diagnosis

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

Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

C. Heizmann, N. Blau, N. Brandt, 1995 .

PROLIDASE DEFICIENCY

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

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.

Psychological Impact of Carrier Screening for Cystic Fibrosis among Pregnant Women

M. Schwartz, F. Skovby, N. Brandt, 1996, European journal of human genetics : EJHG.

Post-tetanic mechanical tension and evoked action potentials in McArdle's disease

C. Krarup, F. Buchthal, Z. Kamieniecka, 1977, Journal of neurology, neurosurgery, and psychiatry.

Congenital hypothyroidism in Denmark.

N. Brandt, B. Brock, Dr B Brock Jacobsen, 1981, Archives of Disease in Childhood.