Literature DB >> 13534771

[Familial disease with associated convulsions with very early onset, excess albumin in the cerebrospinal fluid & hyperaminoaciduria].

R JOSEPH, M RIBIERRE, J C JOB, M GIRAULT.   

Abstract

Entities:  

Keywords:  ALBUMIN/in cerebrospinal fluid; AMINO ACIDS/in urine; CONVULSIONS/in infant and child

Mesh：

Substances：

Year:  1958        PMID： 13534771

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN： 0003-9764


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  7 in total

1.  [ON THE NOMENCLATURE OF CONGENITAL METABOLIC ANOMALIES].

Authors:  I SANO
Journal:  Klin Wochenschr       Date:  1964-02-01

2.  RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA.

Authors:  C R SCRIVER; M L EFRON; I A SCHAFER
Journal:  J Clin Invest       Date:  1964-03       Impact factor: 14.808

3.  Iminoglycinuria in a child in Czechoslovakia.

Authors:  B Blehová; N Păzoutová; J Hyánek; J Jirásek
Journal:  Humangenetik       Date:  1973-07-20

4.  Renal tubular transport of proline, hydroxyproline, and glycine. 3. Genetic basis for more than one mode of transport in human kidney.

Authors:  C R Scriver
Journal:  J Clin Invest       Date:  1968-04       Impact factor: 14.808

5.  Iminoglycinuria--a "harmless" inborn error of metabolism?

Authors:  G R Fraser; A I Friedmann; V M Patton; D N Wade; L I Woolf
Journal:  Humangenetik       Date:  1968

6.  Molecular specificity of tubular reabsorption of L-proline. A microperfusion study in rat kidney.

Authors:  H Völkl; S Silbernagl
Journal:  Pflugers Arch       Date:  1980-09       Impact factor: 3.657

7.  Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

Authors:  Stefan Bröer; Charles G Bailey; Sonja Kowalczuk; Cynthia Ng; Jessica M Vanslambrouck; Helen Rodgers; Christiane Auray-Blais; Juleen A Cavanaugh; Angelika Bröer; John E J Rasko
Journal:  J Clin Invest       Date:  2008-11-06       Impact factor: 14.808
  7 in total

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