Literature DB >> 5727921

Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport.

D T Whelan, C R Scriver.   

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Year:  1968        PMID: 5727921     DOI: 10.1203/00006450-196811000-00011

Source DB:  PubMed          Journal:  Pediatr Res        ISSN: 0031-3998            Impact factor:   3.756


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  9 in total

1.  Familial lysinuric protein intolerance presenting as coma in two adult siblings.

Authors:  P J Shaw; G Dale; D Bates
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-05       Impact factor: 10.154

2.  Congenital ophthalmoplegia, floppy baby syndrome, myopathy, and aminoaciduria. Report of a family.

Authors:  L J Hurwitz; N A Carson; I V Allen; J S Chopra
Journal:  J Neurol Neurosurg Psychiatry       Date:  1969-12       Impact factor: 10.154

3.  A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.

Authors:  S Naidu; S R Dlouhy; M T Geraghty; M E Hodes
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

4.  Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance.

Authors:  W Endres; G Zoulek; J Schaub
Journal:  Eur J Pediatr       Date:  1979-04-25       Impact factor: 3.183

5.  Effect of cephapirin on tubular reabsorption of amino acids, uric acid and beta 2-microglobulin in man.

Authors:  A Arvidsson; G Alván; O Borgå; R Eklöf
Journal:  Br J Clin Pharmacol       Date:  1983-03       Impact factor: 4.335

6.  Cystine uptake by rat renal brush-border vesicles.

Authors:  P D McNamara; L M Pepe; S Segal
Journal:  Biochem J       Date:  1981-02-15       Impact factor: 3.857

7.  Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance.

Authors:  J F Desjeux; R O Simell; A M Dumontier; J Perheentupa
Journal:  J Clin Invest       Date:  1980-06       Impact factor: 14.808

8.  Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline.

Authors:  J Rajantie; O Simell; J Perheentupa
Journal:  Gut       Date:  1980-06       Impact factor: 23.059

Review 9.  Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Authors:  Raquel Yahyaoui; Javier Pérez-Frías
Journal:  Int J Mol Sci       Date:  2019-12-23       Impact factor: 5.923

  9 in total

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