Antenatal detection of genetic enzyme defects.
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Adrenal Hyperplasia, Congenital↗
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A review of selected inherited corneal dystrophies associated with systemic diseases.
The normal transparency of the cornea permits detailed in vivo study of several human pathologic conditions. Many systemic diseases are associated with corneal dystrophies which are manifested by haziness, opacification, crystalline deposition, or discoloration. Although these abnormal states can sometimes be seen grossly, biomicroscopy with slit lamp illumination is necessary for an exact morphologic description. Only precise delineation can lead to an accurate diagnosis of the corneal disorder and thus provide clues for an associatkd systemic disease.
Cornea↗
Glucagon radioimmunoassay: technical problems and recent data.
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Animals↗
[Chronic renal insufficiency. Metabolic and dietetic therapy].
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Acidosis↗
Dietary restriction in inborn errors of amino acid metabolism.
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Adolescent↗
Renal and eye disease.
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Autoimmune Diseases↗
Approaches to the treatment of inborn errors of sulphur amino acid and peptide metabolism.
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Amino Acids, Sulfur↗
Some clinical lessons from histopathology.
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Adult↗
[Congenital metabolic disorders with eye manifestations].
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Albinism↗
[Superficial crystalloid corneal infiltrations in both eyes (cornea argento-cristalliformia)].
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Corneal Opacity↗
[Macula findings in thesaurismoses].
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Adolescent↗
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
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Amino Acid Metabolism, Inborn Errors↗
Intervention of kidney and liver in glucagon catabolism and clearance from plasma.
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Cystinosis↗
Hematology mediquiz. Case 1.
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Bone Marrow Examination↗
Identification and measurement of cysteine-homocysteine mixed disulfide in plasma.
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Amino Acids↗
[On a case of cystine renal calculosis].
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Child, Preschool↗
[The measurement of bicarbonates in normal children and during various nephropathies].
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Acid-Base Equilibrium↗