Results 131 to 140 of about 5,906 (249)

XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)

open access: yesOrphanet Journal of Rare Diseases, 2023
L. Seefried   +14 more
semanticscholar   +1 more source

Progressive myoclonic epilepsy with Fanconi syndrome

open access: yes
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex ...
Andreoletti, Gaia   +5 more
core   +1 more source

Hypophosphataemia in acute pancreatitis.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1985
Serum phosphate levels were measured in a group of 78 patients admitted to hospital with a confirmed diagnosis of acute pancreatitis. Forty-seven (60%) of these patients developed significant hypophosphataemia (less than 0,8 mmol/l) within 4 days of admission.
D B, Sacks, M C, Berman
openaire   +1 more source

Drug-induced renal Fanconi syndrome [PDF]

open access: yes, 2016
A number of therapeutic drugs are toxic to the kidney proximal tubule (PT) and can cause the renal Fanconi syndrome (FS). The most frequently implicated drugs are cisplatin, ifosfamide, tenofovir, sodium valproate and aminoglycoside antibiotics, and the ...
Bass, P., Hall, A.M., Unwin, R.J.
core  

X-linked hypophosphataemia in South Africa.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2004
To investigate the pattern of clinical presentation in a series of South African subjects with X-linked hypophosphataemia (XLH) with particular reference to ethnic differences in presentation and inheritance, and to determine the perceptions and psychosocial problems associated with the disease.The clinical details of 50 subjects were collected from ...
Basu, D, Pettifor, J.M., Kromberg, J
openaire   +2 more sources

Mechanisms of hypophosphataemia in alcoholic patients.

open access: yesInternational journal of clinical practice, 1997
The aim of our study was to determine the possible pathophysiological mechanisms of hypophosphataemia in a group of 127 patients admitted to hospital for alcohol-related causes. Blood and fresh urine specimens were taken to determine acid-base and electrolyte parameters.
Elisaf, M. S., Siamopoulos, K. C.
openaire   +2 more sources

Autosomal recessive hypophosphataemia. [PDF]

open access: yesArchives of Disease in Childhood, 1989
L R, Baker, T C, Stamp
openaire   +2 more sources

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