Leukocyte and liver glutaminase in lysinuric protein intolerance.
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Adolescent↗
Biomedical subjects
J Perheentupa
Publications and source records attributed to J Perheentupa.
[Fructose intolerance and related diseases].
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Carbohydrate Metabolism, Inborn Errors↗
[2 categories of hereditary adrenal cortex hypofunction].
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Addison Disease↗
[From symptoms to syndromes. Table of hereditary diseases arranged according to symptoms].
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Abnormalities, Multiple↗
[Hereditary diseases in Finland--from the clinician's and scientist's point of view].
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Finland↗
[3 hereditary growth disorders].
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Abnormalities, Multiple↗
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
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Amino Acid Metabolism, Inborn Errors↗
[Assignment of sex?].
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Child, Preschool↗
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.
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Bilirubin↗
Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement.
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Adolescent↗
Plasma and urinary steroids in an eight-year-old boy with 3-beta-hydxysteroid dehydrogenase deficiency.
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17-Hydroxycorticosteroids↗
Familial chloride diarrhea-chloride malabsorption.
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Acid-Base Equilibrium↗
Fructose-induced hyperuricaemia.
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Adult↗
Aldocase activities in the liver in parents of patients with hereditary fructose intolerance.
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Adult↗
Familial protein intolerance with deficient transport of basic amino acids. An analysis of 10 patients.
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Adolescent↗
Enzymes of urea synthesis in familial protein intolerance with deficient transport of basic amino acids.
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Amino Acid Metabolism, Inborn Errors↗
Kidney biopsy findings in familial chloride diarrhoea.
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Ammonium Chloride↗
Hypertensive angiopathy in familial chloride diarrhea.
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Child, Preschool↗