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W Sperl

Showing results (91-100 of 112) with videos related to

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Human Mutation|August 14, 1999
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. OnlineS Muro, P Rodríguez-Pombo, B Pérez, et al.
Neuropediatrics|December 19, 2009
Epilepsy in patients with propionic acidemiaE Haberlandt, C Canestrini, M Brunner-Krainz, et al.
European Journal of Pediatrics|April 1, 1990
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden deathW Sperl, W Ruitenbeek, C M Kerkhof, et al.
The Journal of Laboratory and Clinical Medicine|April 1, 1997
Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid PH Henry, J D Tissot, B Messerli, et al.
Biology of the Neonate|January 1, 1992
Postnatal development of pyruvate oxidation in quadriceps muscle of the ratW Sperl, R C Sengers, J M Trijbels, et al.
European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathyIngrid Bader, M Freilinger, F Landauer, et al.
Neuropediatrics|June 24, 2010
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defectM Herzer, J Koch, H Prokisch, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndromeD D de Vries, C J Buzing, W Ruitenbeek, et al.
European Journal of Medical Genetics|July 6, 2016
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosumIngrid Bader, E Decker, J A Mayr, et al.
Pageof 12

Showing results (91-100 of 112) with videos related to

Sort By:
Pageof 12
Human Mutation|August 14, 1999
Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. OnlineS Muro, P Rodríguez-Pombo, B Pérez, et al.
Neuropediatrics|December 19, 2009
Epilepsy in patients with propionic acidemiaE Haberlandt, C Canestrini, M Brunner-Krainz, et al.
European Journal of Pediatrics|April 1, 1990
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden deathW Sperl, W Ruitenbeek, C M Kerkhof, et al.
The Journal of Laboratory and Clinical Medicine|April 1, 1997
Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid PH Henry, J D Tissot, B Messerli, et al.
Biology of the Neonate|January 1, 1992
Postnatal development of pyruvate oxidation in quadriceps muscle of the ratW Sperl, R C Sengers, J M Trijbels, et al.
European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathyIngrid Bader, M Freilinger, F Landauer, et al.
Neuropediatrics|June 24, 2010
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defectM Herzer, J Koch, H Prokisch, et al.
Neuromuscular Disorders : NMD|January 1, 1992
Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndromeD D de Vries, C J Buzing, W Ruitenbeek, et al.
European Journal of Medical Genetics|July 6, 2016
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosumIngrid Bader, E Decker, J A Mayr, et al.
Pageof 12