20 Result(s)

Article

Effects of Hydrophilicity and Microtopography of Titanium Implant Surfaces on Initial Supragingival Plaque Biofilm Formation. A Pilot Study

The aim of the present pilot study is to investigate the effects of hydrophilicity and microtopography of titanium implant surfaces on initial supragingival plaque biofilm formation.

F. Schwarz, A. Sculean, M. Wieland, N. Horn… in Mund-, Kiefer- und Gesichtschirurgie (2007)

Article

Menkes-Syndrom

Bei dem 3-jährigen Patienten wurde im Alter von 3 1/2 Monaten bei rezidivierenden Krampfanfällen aufgrund typischer klinischer Symptome ein Menkes-Syndrom diagnostiziert. Kupferaufnahmestudien in Fibroblasten ...

Priv.-Doz. Dr. G. C. Korenke, I. Marquardt, L. B. Møller… in Monatsschrift Kinderheilkunde (2005)

Article

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenti...

R. Horváth, P. Freisinger, R. Rubio, T. Merl… in Journal of Inherited Metabolic Disease (2005)

Article

Progression des Menkes-Syndroms trotz Normalisierung der Kupfer- und Caeruloplasminspiegel

Das Menkes-Syndrom ist eine seltene, X-chromosomal-rezessiv vererbte Stoffwechselerkrankung mit einem Defekt der ATPase ATP7A, der in einem gestörten Kupfertransport und damit einer verminderten Aktivität kupf...

U. Eschrich, U. Preiß, S. Brömme, A. Jassoy, J. Wohlrab… in Monatsschrift Kinderheilkunde (2004)

Article

Die urämische Enzephalopathie als Erstmanifestation eines akuten postrenalen Nierenversagens im Notarztdienst

Neurocognitive disorders are often the reason to call for an emergency physician. We report on a 71 year old male patient who showed a sudden sensorial clouding caused by an uremic encephalopathy. The patient...

N. Horn, B. Schöttler, R. Rossaint in Intensivmedizin und Notfallmedizin (1999)

Article

Menkes disease: Underlying genetic defect and new diagnostic possibilities

Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these fi...

Z. Tümer, N. Horn in Journal of Inherited Metabolic Disease (1998)

Article

Investigation of the copper binding sites in the Menkes disease protein, ATP7A

P. Y. Jensen, N. Bonander, B. G. Karlsson… in Journal of Inherited Metabolic Disease (1998)

Article

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

Z. Tümer, T. Tønnesen, N. Horn in Journal of Inherited Metabolic Disease (1994)

Article

Clinical and biochemical consequences of copper-histidine therapy in Menkes disease

Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent ...

J. Kreuder, A. Otten, H. Fuder, Z. Tümer, T. Tønnesen… in European Journal of Pediatrics (1993)

Article

Map** of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long...

Z. Tümer, N. Tommerup, T. Tønnesen, J. Kreuder, I. W. Craig, N. Horn in Human Genetics (1992)

Chapter and Conference Paper

Tn5301, A Lactococcal Transposon Encoding Genes for Nisin Biosynthesis

The genes for nisin biosynthesis are encoded by the conjugative transposon Tn5301. The element is 70kb in size and is located in the chromosome of the nisin-producing strain FI5876. Sequence analysis demonstrated...

H. M. Dodd, N. Horn, S. Swindell, M. J. Gasson in Bacteriocins, Microcins and Lantibiotics (1992)

Article

Incidence of Menkes disease

We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering liv...

T. Tønnesen, W. J. Kleijer, N. Horn in Human Genetics (1991)

Article

Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism

105 patients with Menkes disease have been diagnosed from⁶⁴Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of⁶⁴Cu from the medium for 16 Menkes patients...

T. Tønnesen, N. Horn in Journal of Inherited Metabolic Disease (1989)

Chapter

Prenatal and Postnatal Diagnosis of Menkes Disease, an Inherited Disorder of Copper Metabolism

105 patients with Menkes disease have been diagnosed from ⁶⁴Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of ⁶⁴Cu from the medium for 16 Menkes patien...

T. Tønnesen, N. Horn in Studies in Inherited Metabolic Disease (1989)

Article

Variability in clinical expression of Menkes syndrome

Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symp...

A.-M. Gerdes, T. Tønnesen, E. Pergament, C. Sander… in European Journal of Pediatrics (1988)

Chapter and Conference Paper

Prenatal Diagnosis of Menkes’ Syndrome by Direct Copper Analysis of Trophoblastic Tissue

Menkes’ syndrome is a congenital disruption of copper metabolism transmitted as an X-linked recessive trait and characterized by increased copper accumulation in multiple cell types in the body and in culture ...

N. Horn, F. Søndergaard, E. Damsgaard, K. Heydorn in First Trimester Fetal Diagnosis (1985)

Article

Menkes' disease: Clinical, therapeutic and biochemical studies

K. E. Baerlocher, B. Steinmann, V. H. Rao… in Journal of Inherited Metabolic Disease (1983)

Article

Menkes' X-linked disease: Prenatal diagnosis and carrier detection

Increased⁶⁴Cu uptake into cultured cells is a biochemical marker for mutant cells in Menkes' disease (McKusick 30940). Using this marker selective prenatal diagnosis has been carried out in more than 80 at-risk p...

N. Horn in Journal of Inherited Metabolic Disease (1983)