Search Results - "Hadorn, H B"

Alpha-1-antitrypsin deficiency in children: liver disease is not reflected by low serum levels of alpha-1-antitrypsin - a study on 48 pediatric patients by Lang, Thomas, Mühlbauer, M, Strobelt, M, Weidinger, S, Hadorn, H B

“…Alpha-1-antitrypsin (alpha1-AT) is an important protease inhibitor. The phenotypes are characterized by a low total serum alpha1-AT or by an abnormal protein…”
Get more information

Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria by Randak, C., Röschinger, W., Rolinski, B., Hadorn, H.‐B., Applegarth, D. A., Roscher, A. A.

Get full text

MRI of primary meningeal sarcomas in two children : differential diagnostic considerations by PFLUGER, T, WEIL, S, WEIS, S, BISE, K, EGGER, J, HADORN, H. B, HAHN, K

“…Meningeal sarcomas are very rare, highly aggressive tumours affecting children more frequently than adults. The clinical course and MRI of meningeal sarcomas…”
Get full text

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria by IBEL, H, ENDRES, W, HADORN, H.-B, DEUFEL, T, PAETZKE, I, DURAN, M, KENNAWAY, N. G, GIBSON, K. M

“…In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic…”
Get full text

Congenital Microvillus Atrophy in a Girl with Autosomal Dominant Hypochondroplasia by Heinz-Erian, Peter, Schmidt, Heinrich, Le Merrer, Martine, Phillips, Alan D, Kiess, Wieland, Hadorn, Hans-Beat

Get full text

Pretransplant Management and Small Bowel-Liver Transplantation in an Infant with Microvillus Inclusion Disease by Randak, Christoph, Langnas, Alan N, Kaufman, Stuart S, Phillips, Alan D, Wisecarver, James L, Hadorn, Hans-Beat, Vanderhoof, Jon A

Get full text

Crohn's Disease and Ulcerative Colitis with Onset in the Same Year in Two Sisters by Castro, M., Rosati, P., Lucidi, V., Scotta, M. S., Papadatou, B., Hadorn, H. B.

Get full text

Mutation analysis in the diagnosis of cystic fibrosis by DEUFEL, T, RABE, H.K, WIESER, T, MEITINGER, T, ROSENECKER, J, BERTELE-HARMS, R, HARMS, K, HADORN, H.-B, ROSCHER, A. A

“…Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, delta…”
Get full text

Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency by Holzinger, Andreas, Maier, Esther M., Bück, Cornelius, Mayerhofer, Peter U., Kappler, Matthias, Haworth, James C., Moroz, Stanley P., Hadorn, Hans-Beat, Sadler, J. Evan, Roscher, Adelbert A.

“…Enteropeptidase (enterokinase [E.C.3.4.21.9]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic…”
Get full text

Replacement therapy for a homozygous protein C deficiency-state using a concentrate of human protein C and S by Vukovich, T, Auberger, K, Weil, J, Engelmann, H, Knöbl, P, Hadorn, H B

“…A severe congenital deficiency of protein C was diagnosed in a 10-month-old girl who had been suffering from skin necrosis since the age of 7 months. The…”
Get more information

Vitamin D dependent rickets type II with myelofibrosis and immune dysfunction by WALKA, M. M, DAUMLING, S, HADORN, H.-B, KRUSE, K, BELOHRADSKY, B. H

“…We present a new patient with vitamin D dependent rickets type II. A 20-month-old Arabian boy whose parents are first cousins showed florid rickets,…”
Get full text

Bone marrow transplantation in Lesch‐Nyhan disease by Endres, W., Helmig, M., Shin, Y. S., Albert, E., Wank, R., Ibel, H., Weiss, M., Hadorn, H. ‐B., Hass, R.

Get full text

Hartnup syndrome, progressive encephalopathy and allo-albuminaemia : a clinico-pathological case study by SCHMIDTKE, K, ENDRES, W, ROSCHER, A, IBEL, H, HERSCHKOWITZ, N, BACHMANN, C, PLÖCHL, E, HADORN, H. B

“…Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the…”
Get full text

Interferon alpha-2a therapy of consumptive coagulopathy in Kasabach-Merritt syndrome by Klein, C, Hauser, M, Hadorn, H B

Get full text

Copper associated liver diseases in children. Introduction by Hadorn, H B

Get more information

Fetal alcohol syndrome and malignant disease by Kiess, W, Linderkamp, O, Hadorn, H B, Haas, R

“…The authors report a further case of FAS and associated malignant disease. In addition all such children reported in the literature to date are reviewed. From…”
Get full text

Hormone-elicited enzyme release by the small intestinal wall by Götze, H., Adelson, J. W., Hadorn, H. B., Portmann, R., Troesch, V.

“…Three enzymes of intestinal origin—enterokinase, alkaline phosphatase, and sucrase—were released into the perfused small intestinal lumen of the rat upon…”
Get full text

Renal function and renotropic effects of secretin in cystic fibrosis by Windstetter, D, Schaefer, F, Schärer, K, Reiter, K, Eife, R, Harms, H K, Bertele-Harms, R, Fiedler, F, Tsui, L C, Reitmeir, P, Horster, M, Hadorn, H B

“…In ten cystic fibrosis patients and nine age-matched controls, renal function was determined before and after infusion of secretin. Under baseline conditions…”
Get more information

Expression and functional properties of the second predicted nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator fused to glutathione-S-transferase by Randak, C, Roscher, A A, Hadorn, H B, Assfalg-Machleidt, I, Auerswald, E A, Machleidt, W

“…CFTR-NBF-2 was expressed in Escherichia coli in fusion with glutathione-S-transferase, the soluble portion was purified and identified as a structured protein…”
Get full text

A recombinant polypeptide model of the second predicted nucleotide binding fold of the cystic fibrosis transmembrane conductance regulator is a GTP-binding protein by Randak, Christoph, Neth, Peter, Auerswald, Ennes A., Assfalg-Machleidt, Irmgard, Roscher, Adelbert A., Hadorn, Hans-Beat, Machleidt, Werner

“…Association reactions of a recombinant CFTR-NBF-2 polypeptide fused to glutathione S-transferase with guanine nucleotides were monitored quantitatively by…”
Get full text