Search Results - "Hauffa, Berthold P"

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice by Binder, Gerhard, Reinehr, Thomas, Ibáñez, Lourdes, Thiele, Susanne, Linglart, Agnès, Woelfle, Joachim, Saenger, Paul, Bettendorf, Markus, Zachurzok, Agnieszka, Gohlke, Bettina, Randell, Tabitha, Hauffa, Berthold P, Claahsen van der Grinten, Hedi L, Holterhus, Paul-Martin, Juul, Anders, Pfäffle, Roland, Cianfarani, Stefano

“…Almost 20 years after the first international guidelines on the diagnosis and treatment of GHD have been published, clinical practice varies significantly. The…”
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Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III by Kölbel, Heike, Hauffa, Berthold P, Wudy, Stefan A, Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

“…Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein…”
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No Effect of Thyroid Dysfunction and Autoimmunity on Health-Related Quality of Life and Mental Health in Children and Adolescents: Results From a Nationwide Cross-Sectional Study by Hirtz, Raphael, Keesen, Anne, Hölling, Heike, Hauffa, Berthold P., Hinney, Anke, Grasemann, Corinna

“…Background: In adults, a significant impact of thyroid dysfunction and autoimmunity on health-related quality of life (HRQoL) and mental health is described…”
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The adrenal steroid profile in adolescent depression: a valuable bio-readout? by Hirtz, Raphael, Libuda, Lars, Hinney, Anke, Föcker, Manuel, Bühlmeier, Judith, Holterhus, Paul-Martin, Kulle, Alexandra, Kiewert, Cordula, Hauffa, Berthold P., Hebebrand, Johannes, Grasemann, Corinna

“…There is preliminary evidence that adrenal steroids other than cortisol may be valuable biomarkers for major depressive disorder (MDD). So far, studies have…”
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A Piece of the Puzzle: The Bone Health Index of the BoneXpert Software Reflects Cortical Bone Mineral Density in Pediatric and Adolescent Patients by Schündeln, Michael M, Marschke, Laura, Bauer, Jens J, Hauffa, Pia K, Schweiger, Bernd, Führer-Sakel, Dagmar, Lahner, Harald, Poeppel, Thorsten D, Kiewert, Cordula, Hauffa, Berthold P, Grasemann, Corinna

“…Suspected osteopathology in chronically ill children often necessitates the assessment of bone mineral density. The most frequently used methods are…”
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Managing Transition in Patients Treated with Growth Hormone by Hauffa, Berthold P, Touraine, Philippe, Urquhart-Kelly, Tanya, Koledova, Ekaterina

“…Growth hormone (GH) promotes growth in children, but is also essential for bone strength, body composition, metabolic factors, such as lipid profile, and…”
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Loss of Functional Osteoprotegerin: More Than a Skeletal Problem by Grasemannn, Corinna, Unger, Nicole, Hövel, Matthias, Arweiler-Harbeck, Diana, Herrmann, Ralf, Schündeln, Michael M, Müller, Oliver, Schweiger, Bernd, Lausch, Ekkehart, Meissner, Thomas, Kiewert, Cordula, Hauffa, Berthold P, Shaw, Nick J

“…Introduction: Juvenile Pagets disease (JPD), an ultra-rare, debilitating bone disease stemming from unopposed RANKL action due to loss of functional…”
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Correction: Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III by Kölbel, Heike, Hauffa, Berthold P, Wudy, Stefan A, Bouikidis, Anastasios, Della Marina, Adela, Schara, Ulrike

“…[This corrects the article DOI: 10.1371/journal.pone.0173144.]…”
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Impairment of bone health in pediatric patients with hemolytic anemia by Schündeln, Michael M, Goretzki, Sarah C, Hauffa, Pia K, Wieland, Regina, Bauer, Jens, Baeder, Lena, Eggert, Angelika, Hauffa, Berthold P, Grasemann, Corinna

“…Sickle cell anemia and thalassemia result in impaired bone health in both adults and youths. Children with other types of chronic hemolytic anemia may also…”
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Prevalence of osteopathologies in a single center cohort of survivors of childhood primary brain tumor by Schündeln, Michael M, Fritzemeier, Sebastian, Goretzki, Sarah C, Hauffa, Pia K, Munteanu, Martin, Kiewert, Cordula, Hauffa, Berthold P, Fleischhack, Gudrun, Tippelt, Stephan, Grasemann, Corinna

“…Childhood primary brain tumors (CPBT) are the second largest group of childhood malignancies and associated with a high risk for endocrine late effects. To…”
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Maternal vitamin D status in preeclampsia: seasonal changes are not influenced by placental gene expression of vitamin D metabolizing enzymes by Lechtermann, Carolin, Hauffa, Berthold P, Herrmann, Ralf, Schündeln, Michael M, Gellhaus, Alexandra, Schmidt, Markus, Grasemann, Corinna

“…Preeclampsia, a hypertensive disorder in pregnancy develops in 2-8% of pregnancies worldwide. Winter season and vitamin D deficiency have been associated with…”
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Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study by Arlt, Wiebke, Walker, Elizabeth A, Draper, Nicole, Ivison, Hannah E, Ride, Jon P, Hammer, Fabian, Chalder, Susan M, Borucka-Mankiewicz, Maria, Hauffa, Berthold P, Malunowicz, Ewa M, Stewart, Paul M, Shackleton, Cedric HL

“…Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating…”
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Long-term follow-up of pediatric patients receiving total body irradiation before hematopoietic stem cell transplantation and post-transplant survival of >2 years by Künkele, Annette, Engelhard, Marianne, Hauffa, Berthold P., Mellies, Uwe, Müntjes, Carsten, Hüer, Claudia, Eggert, Angelika, Schulte, Johannes H., Kremens, Bernhard

“…Background Total body irradiation (TBI) treatment eradicates malignant cells and suppresses the immune system before hematopoietic stem cell transplantation…”
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Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany by Dörr, Helmuth G, Wollmann, Hartmut A, Hauffa, Berthold P, Woelfle, Joachim

“…Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to…”
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor ( ) gene and causes FSH resistance by KUECHLER, Amla, HAUFFA, Berthold P, KÖNINGER, Angela, KLEINAU, Gunnar, ALBRECHT, Beate, HORSTHEMKE, Bernhard, GROMOLL, Jörg

“…Follicle-stimulating hormone (FSH) mediated by its receptor (FSHR) is pivotal for normal gametogenesis. Inactivating FSHR mutations are known to cause…”
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Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1 by Welzel, Maik, Akin, Leyla, Büscher, Anja, Güran, Tülay, P Hauffa, Berthold, Högler, Wolfgang, Leonards, Julia, Karges, Beate, Kentrup, Heiner, Kirel, Birgul, Senses, Emine Esin Yalinbas, Tekin, Neslihan, Holterhus, Paul-Martin, Riepe, Felix G

“…BackgroundPseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or…”
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Prevalence of Osteopathologies in Children and Adolescents After Diagnosis of Acute Lymphoblastic Leukemia by Schündeln, Michael M., Hauffa, Pia K., Munteanu, Martin, Kiewert, Cordula, Unger, Nicole, Bauer, Jens J., Hauffa, Berthold P., Grasemann, Corinna

“…Background: Impaired bone health is a late effect of childhood malignancies which can be difficult to detect in juvenile survivors. It may, however, lead to…”
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Parental diabetes: the Akita mouse as a model of the effects of maternal and paternal hyperglycemia in wildtype offspring by Grasemann, Corinna, Devlin, Maureen J, Rzeczkowska, Paulina A, Herrmann, Ralf, Horsthemke, Bernhard, Hauffa, Berthold P, Grynpas, Marc, Alm, Christina, Bouxsein, Mary L, Palmert, Mark R

“…Maternal diabetes and high-fat feeding during pregnancy have been linked to later life outcomes in offspring. To investigate the effects of both maternal and…”
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Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype by Shackleton, Cedric, Marcos, Josep, Arlt, Wiebke, Hauffa, Berthold P.

“…We report studies on the second pregnancy of a woman who had previously given birth to a virilized female infant. The cause of the virilization had not been…”
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Metabolic Safety of Growth Hormone in Type 1 Diabetes and Idiopathic Growth Hormone Deficiency by Bonfig, Walter, MD, Molz, Katharina, MD, Woelfle, Joachim, MD, PhD, Hofer, Sabine E., MD, Hauffa, Berthold P., MD, PhD, Schoenau, Eckhard, MD, PhD, Golembowski, Sven, MD, Wudy, Stefan A., MD, PhD, Holl, Reinhard W., MD, PhD

“…Objective To evaluate metabolic consequences of growth hormone (GH) treatment in children with type 1 diabetes. Study design This study is an analysis of…”
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