Results 151 to 160 of about 4,878 (206)

Adult-Onset Fanconi Syndrome Presenting as Stress Fractures: A Case Report. [PDF]

J Orthop Case Rep
Gupta S, Kamat N, Shenoy DV, Agarwal S.
europepmc   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study. [PDF]

Medicina (Kaunas)
Dickson K, Wu HHL, Sharma R, Stepien KM, Jovanovic A, Chinnadurai R.   +5 more
europepmc   +1 more source

Genetics in Kidney Diseases. [PDF]

Adv Kidney Dis Health
Yu SM, Campbell K.
europepmc   +1 more source

Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.

J Am Soc Nephrol
Levtchenko E, Arcolino FO.
europepmc   +1 more source

Cystinosis.

Indian pediatrics, 1986
D, Gera, M J, Mehta, B M, Shah
openaire   +1 more source

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Cystinosis

New England Journal of Medicine, 2002
William A, Gahl, Jess G, Thoene, Jerry A, Schneider   +2 more
exaly   +3 more sources

Cystinosis

Journal of Inherited Metabolic Disease, 1995
SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
openaire   +3 more sources