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Delayed Irreversible Fanconi Syndrome Associated With Vertebral Fracture After Tenofovir Discontinuation. [PDF]
CureusQorban GN +3 more
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Tumor-Induced Osteomalacia due to Sarcomatoid Non-Small Cell Lung Carcinoma Confounded by Drug-Induced Fanconi Syndrome. [PDF]
JCEM Case RepAlHamer B +3 more
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Pediatric Clinics of North America, 2019
Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration.
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Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration.
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World Journal of Pediatrics, 2023
Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.We searched Pubmed and Scopus databases to find relevant articles ...
Anna Luiza Braga Albuquerque +7 more
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Fanconi-Debré-de Toni syndrome (also known as Fanconi renotubular syndrome, or FRST) profoundly increased the understanding of the functions of the proximal convoluted tubule (PCT) and provided important insights into the pathophysiology of several kidney diseases and drug toxicities.We searched Pubmed and Scopus databases to find relevant articles ...
Anna Luiza Braga Albuquerque +7 more
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Klinische Pädiatrie, 1990
The Fanconi-Bickel syndrome is characterized by tubular dysfunction, impaired metabolism of glucose and galactose and glycogenosis. Up to now the data of nineteen patients have been reported. In the following case firstly an abnormal body composition is described measuring the concentration of Potassium-40 with a Whole Body Radiation Counter.
H C, Koch, R, Mallmann
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The Fanconi-Bickel syndrome is characterized by tubular dysfunction, impaired metabolism of glucose and galactose and glycogenosis. Up to now the data of nineteen patients have been reported. In the following case firstly an abnormal body composition is described measuring the concentration of Potassium-40 with a Whole Body Radiation Counter.
H C, Koch, R, Mallmann
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The Indian Journal of Pediatrics, 2011
We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion
, Mohandas Nair K +3 more
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We present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion
, Mohandas Nair K +3 more
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Pediatric Nephrology, 1987
Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased.
Friedrich Manz +10 more
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Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased.
Friedrich Manz +10 more
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Archives of Otolaryngology - Head and Neck Surgery, 1970
The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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