27 Result(s)

Article

Diagnostic criteria for sarcopenia and physical performance

Relative and absolute muscle mass and muscle strength are used as diagnostic criteria for sarcopenia. We aimed to assess which diagnostic criteria are most associated with physical performance in 180 young (18...

A. Y. Bijlsma, C. G. M. Meskers, N. van den Eshof, R. G. Westendorp, S. Sipilä… in AGE (2014)

Article

Diagnostic measures for sarcopenia and bone mineral density

Currently used diagnostic measures for sarcopenia utilize different measures of muscle mass, muscle strength, and physical performance. These diagnostic measures associate differently to bone mineral density (...

A. Y. Bijlsma, M. C. G. Meskers, M. Molendijk… in Osteoporosis International (2013)

Chapter

Stoffwechselerkrankungen des Nervensystems

Stoffwechselerkrankungen können sich klinisch auf verschiedene Weise präsentieren:

Chapter

Fehlbildungen des zentralen Nervensystems und des kraniozervikalen Übergangs

Fehlbildungen des ZNS gehören zu den häufigsten Problemen im Bereich der Neuropädiatrie. Die hier behandelten Fehlbildungen entsprechen morphologischen Abweichungen vom Normalen, die während der embryonalen od...

G. Göhlich, T. Voit in Klinische Neurologie (2006)

Article

Fumarase deficiency presenting with periventricular cysts

A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only one...

J. Loeffen, R. Smeets, T. Voit, G. Hoffmann… in Journal of Inherited Metabolic Disease (2005)

Article

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient presented in the neonatal period with several signs of severe live...

N. M. Verhoeven, M. Wallot, J. H. J. Huck… in Journal of Inherited Metabolic Disease (2005)

Article

Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

The clinical, neuroradiological, neuropathological and biochemical findings in a patient with optico-cochleo-dentate degeneration (OCDD; OMIM 258700) are presented in a severe case succumbing at the age of 4 y...

J. M. Schröder, V. Hackel, R. J. A. Wanders, G. Göhlich-Ratmann… in Acta Neuropathologica (2004)

Article

Progrediente neuromuskuläre Erkrankungen

U. Mellies, R. Ragette, C. Schwake, H. Böhm, H. Teschler… in Monatsschrift Kinderheilkunde (2003)

Article

Nichtinvasive Beatmung bei neuromuskulären Erkrankungen

U. Mellies, C. Schwake, R. Ragette, H. Böhm, H. Teschler… in Monatsschrift Kinderheilkunde (2003)

Article

Introduction of a ketogenic diet in young infants

The ketogenic diet is a rational treatment for pyruvate dehydrogenase complex deficiency (McKusick 312170) and GLUT1 deficiency syndrome (McKusick 138140). An increasing number of patients are diagnosed in ear...

J. Klepper, B. Leiendecker, R. Bredahl… in Journal of Inherited Metabolic Disease (2002)

Article

Indikation und Anwendung der ketogenen Diät im Kindesalter1. Workshop ketogene Diät am 15. Dezember 2000 in Essen

J. Klepper, D. Ecker, P. Burkart, B. Leiendecker, T. Voit… in Monatsschrift Kinderheilkunde (2001)

Article

Angeborene Störungen des Glukosetransports

J. Klepper, R. Santer, M. Baethmann, D.C. De Vivo, T. Voit in Monatsschrift Kinderheilkunde (2000)

Chapter

Fehlbildungen des zentralen Nervensystems und des kraniozervikalen Übergangs

Fehlbildungen des ZNS gehören zu den häufigsten Problemen im Bereich der Neuropädiatrie. Die hier behandelten Fehlbildungen entsprechen morphologischen Abweichungen vom Normalen, die während der embryonalen od...

G. Göhlich-Ratmann, T. Voit in Klinische Neurologie (1999)

Chapter

Stoffwechselerkrankungen des Nervensystems

Stoffwechselerkrankungen können sich klinisch auf verschiedene Weise präsentieren:

Article

Spatial distribution of β-spectrin in normal and dystrophic human skeletal muscle

Spectrin, a major component of the erythrocyte membrane skeleton, has previously been shown to form a two-dimensional lattice in erythrocytes, and in avian or chicken skeletal muscle. Those results were mainl...

S. Ehmer, R. Herrmann, Reginald Bittner, T. Voit in Acta Neuropathologica (1997)

Article

Congenital muscular dystrophy with laminin α2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry

The laminins comprise of a family of heterotrimeric proteins of the extracellular matrix. The cross-shaped proteins consist of a heavy α-chain and two light chains, called β and γ. Each group of chains, classi...

R. Herrmann, V. Straub, K. Meyer, T. Kahn, M. Wagner… in European Journal of Pediatrics (1996)

Article

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein^1–3, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD)⁴. This is a Duchenne-like dis...

F. Piccolo, S.L. Roberds, M. Jeanpierre, F. Leturcq, K. Azibi… in Nature Genetics (1995)