Results 31 to 40 of about 187,796 (197)

Metabolism of Vitamin D3-3H in Vitamin D-Resistant Rickets and Familial Hypophosphatemia* [PDF]

Journal of Clinical Investigation, 1967
The fate of an intravenous dose of tritiated vitamin D(3) was studied in seven normal subjects, four children with vitamin D-resistant rickets, and four adults with a familial history of vitamin D-resistant rickets and persistent hypophosphatemia. An abnormal metabolism of vitamin D in vitamin D-resistant rickets was defined and characterized by a ...
L V, Avioli, T F, Williams, J, Lund, H F, DeLuca   +3 more
openaire   +2 more sources

Dent's disease

Orphanet Journal of Rare Diseases, 2010
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure.
Thakker Rajesh V, Devuyst Olivier
doaj   +1 more source

A Phase 1 Study of Convection‐Enhanced Delivery of Intraputaminal AAV2‐GDNF in Advanced Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a progressive neurodegenerative disorder. Neurotrophic therapeutic approaches have been limited in part by incomplete delivery to the putamen. We developed image‐guided convection‐enhanced delivery with real‐time monitoring to improve intraputaminal distribution of neurotrophic gene therapy. Objectives To
John D. Heiss, Debra J. Ehrlich, Codrin Lungu, Joseph Y. Choi, Gretchen Scott, Irene Dustin, Dima A. Hammoud, Peter Herscovitch, Russell R. Lonser, Kareem A. Zaghloul, Krystof Bankiewicz   +10 more
wiley   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal, Katherine A. Dudley, Stacey Sullivan, Kate T. Brizzi, Katherine M. Burke, Sydney Hall, Kiersten Pease, Joshua N. Goldstein, James D. Berry, Doreen T. Ho   +9 more
wiley   +1 more source

X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male and Review of Literature

Hormone and Metabolic Research, 2023
AbstractX-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who ...
Shadan Jabbar Abdullah, Taha Othman Mahwi, Areewan Mohamad Salih Saeed, Darya Saeed Abdulateef, Heshu Sulaiman Rahman, Shaho Fatah Ahmed, Sarkan Ahmed Abdulqader   +6 more
openaire   +2 more sources

Low Serum Alkaline Phosphatase Levels in Paediatric sepsis Correlate With Acute Kidney Injury: A Multicenter Retrospective Study

Acta Paediatrica, Volume 115, Issue 10, Page 2315-2322, October 2026.
ABSTRACT Aims To investigate the association between serum ALP levels and the development of AKI in paediatric patients with sepsis. Methods Retrospective screening of a computerized database of 4 Israeli regional hospitals for children (0–18 years) hospitalized between 1.01.2000–1.06.2024 with ICD‐9 sepsis‐related diagnoses (study group) and age‐ and ...
Evgenia Gurevich, Ido Levi, Yehonatan Marziano, Michael Kalinin, Natalya Bilenko, Daniel Landau   +5 more
wiley   +1 more source

The Binding of Fibroblast Growth Factor 23 (FGF23) to FGF Receptor‐αKlotho Complex Increases Sinoatrial Electrical Activity

Acta Physiologica, Volume 242, Issue 10, October 2026.
ABSTRACT Aim This study aims to investigate whether the Fibroblast Growth Factor 23 (FGF23) modulates the electrical activity of sinoatrial (SAN) cells. The canonical function of FGF23 is to regulate body phosphorus and calcium homeostasis by activating the FGF1 receptors (FGFR1)/α‐Klotho complex in the kidney and parathyroid glands.
Giorgia Bertoli, Patrizia Benzoni, Serena Canzolino, David Molla, Raffaella Milanesi, Chiara Piantoni, Makoto Kuro‐o, Carmen Delgado, Gema Ruiz‐Hurtado, Mirko Baruscotti, Annalisa Bucchi   +10 more
wiley   +1 more source

A new model of care for familial hypercholesterolaemia: What is the role of cardiology?

, 2012
Familial hypercholesterolaemia (FH) is a co-dominantly inherited disorder that causes marked elevation in plasma cholesterol and premature coronary heart disease.
Clifton, P., Watts, G., van Bockxmeer, Frank M, Clifton, Peter M., Sullivan, David R, George, Peter M, Australasia Network Consensus Group (Aust, Familial Hypercholesterolaemia, Poplawski, N., Bishop, W., Semsarian, Christopher, Tonkin, Andrew, Semsarian, C., O'Brien, Richard C, O'Brien, R., Hamilton-Craig, I., Sullivan, D., van Bockxmeer, F., van Bockxmeer, Frank M., Tonkin, A., Hamilton-Craig, Ian, Clifton, Peter M, Watts, Gerald F, O'Brien, Richard C., Bishop, Warrick, Poplawski, Nicola, George, Peter M., George, P., Watts, Gerald F., Sullivan, David R.   +28 more
core   +1 more source

Vitamin D Resistant Rickets (Familial Hypophosphatemia)

Eurasian Journal of Medicine, 2019
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Ayla San, Faruk Memik, Yekta Leblebicioğlu   +2 more
doaj  

Approach to a Child with Hypophosphatemia. [PDF]

Biomolecules
Hypophosphatemia is a rare ion disorder in children, but it carries the risk of serious clinical sequelae in tissues and organs with high energy requirements, such as bone tissue.
Antonowicz A, Lipiński P, Popow M, Skrzypczyk P.   +3 more
europepmc   +2 more sources