A novel neurological disorder with progressive CNS calcification, deafness/ renal tubular acidosis, and microcytic anemia-Reference-Cited by-同舟云学术

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A novel neurological disorder with progressive CNS calcification, deafness/ renal tubular acidosis, and microcytic anemia

Published:2008-09-29 Issue:3 Volume:39 Page:198-201
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

Yoshimara Masaki,Hara Toshiro,Maegaki Yoshihiro,Koeda Talshyn,Okubo Kenshi,Humasaki Naotaka,Sly William S.,Takeshila Kenzo

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.1997.tb07410.x/fullpdf

Reference11 articles.

1. Encephalopathy with intracerebral calcification, white matter lesions. growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entry;Bonnemann;Journal of Medical Genetics,1991

2. Persistent isolated proximal renal tubular acidosis -a systemic disease with a distinct clinical entity;Igarashi;Pediatric Nephrology,1994

3. Intracranial calcification in paediatric computed tomography;Kendall;Neuroradiology,1986

4. Extensive central nervous system calcification in a stillborn male infant due to cytomegalovirus infection;Marquis;American Journal of Roentgenology,1976

5. Marble brain disease:recessive osteopetrosis.renal tubularacidosis and cerebral calcification in three Saudi Arabian families;Ohlsson;Developmental Medicine and Child Neurology,1980

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1. Intracerebral Calcifications Associated with Failure to Thrive and Macular Degeneration in an Adolescent: A Case Report;International Medical Case Reports Journal;2024-06

2. Brain dysfunction in tubular and tubulointerstitial kidney diseases;Nephrology Dialysis Transplantation;2021-11-18

3. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease;Human Mutation;2021-05-11

4. Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy;Brain;2019-02-03

5. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature;Orphanet Journal of Rare Diseases;2018-04-04

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