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Iminoglycinuria

National Institutes of Health

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2 relations

Broader (2)

GlycineRenal Tubular Transport, Inborn Errors

Papers overview

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2004
2004
Iminoglycinuria — A “harmless” inborn error of metabolism?
SummaryA boy with iminoglycinuria was discovered during routine urinary amino acid screening of a series of children with severe… 
1993
1993
Iminoglycinuria: a benign type of inherited aminoaciduria.
The diagnosis of iminoglycinuria was established in two patients on the basis of increased urinary excretion of proline… 
1985
1985
A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina: A case report
Abstract. A three‐year‐ten‐month old boy with the Fukuyama type of congenital muscular dystrophy (FCMD), early onset of muscular… 
1980
1980
Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria
Urinary amino acids have been determined in six patients with propionic acidaemia, one of whom also showed 3… 
Review
1979
Review
1979
Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977.
1978
1978
193 THE USE OF ONTOGENY AND MUTATION TOGETHER TO DEFINE THREE RENAL TRANSPORT SYSTEMS FOR PROLINE AND GLYCINE IN MAN
Renal hyperiminoglycinuria with impaired net tubular reabsorption of proline (pro), hydroxyproline and glycine (gly) occurs… 
1974
1974
THE ENZYMATIC DEFECT IN TYPE II HYPERPROLINEMIA: ABSENCE OF Δ-PYRROLINE-5-CARBOXYLIC ACID DEHYDROGENASE ACTIVITY
Type II hyperprolinemia is characterized by hyperprolinemia, iminoglycinuria and urinary excretion of o-aminobenzaldehyde (OAB… 
1973
1973
Iminoglycinuria in a child in Czechoslovakia
SummaryThe child with iminoglycinuria is in our observation. Hyperprolinuria was seen at 5 months by screening program. The child… 
1972
1972
Iminoglycinuria. A defect of renal tubular transport.
1971
1971
Iminoaciduria: a benign renal tubular defect.
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