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6,248 Possible Causes for Mutations in the Cystinosis Gene, Pediatric Disorder, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org] J Pediatr 109(4): 605–608. Google Scholar Gahl WA, Schneider JA, Thoene JG (2001) Cystinosis: a disorder of lysosomal membrane transport.[link.springer.com] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com]

  • Cystinosis

    Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] Metabolic disorders. Pediatric Nephrology. Baltimore, MD: Lippincott Williams & Wilkins; 1994. 537- 57. Gahl WA. Cystinosis coming of age. Adv Pediatr. 1986. 33:95-126.[emedicine.medscape.com] Author information 1 Pediatric Dentistry, School of Dentistry, Federal University of Rio de Janeiro, Brazil.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystic Fibrosis

    This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] Children's is home to the leading pediatric pulmonology program in Georgia.[choa.org] […] dbc :RTT dbc :Rare_diseases dbr :Disorder rdf: type owl :Thing wikidata :Q12136 dbo :Disease umbel-rc :AilmentCondition rdfs: comment Cystic fibrosis (CF) is a genetic disorder[dbpedia.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • MELAS Syndrome

    Initially the muscle biopsy may show only muscle fibers with subsarcolemmal accumulation of mitochondria without typical RRF, but all patients with MELAS have RRF in the course[scielo.br] Links Publisher Full Text Authors Show Affiliations, Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates[unboundmedicine.com] Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr. 2004 Jan. 144(1):81-5. [Medline]. Scaglia F, Northrop JL.[emedicine.medscape.com]

    Missing: Mutations in the Cystinosis Gene
  • Acute Gastroenteritis

    Seventy children with acute gastroenteritis and their parents completed the Rome III Diagnostic Questionnaire for Pediatric Functional GI Disorders and the Children's Somatization[ncbi.nlm.nih.gov] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr . 2009 Nov. 49(5):580-3. [Medline] .[emedicine.medscape.com] Rotavirus gastroenteritis: precursor of functional gastrointestinal disorders?. J Pediatr Gastroenterol Nutr. 2009 Nov. 49(5):580-3. [Medline].[emedicine.medscape.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Pseudohypoaldosteronism of Infancy

    Science 285: 103–106 PubMed CrossRef Google Scholar Town M, Jean G, Cherqui S et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis[link.springer.com] Explore the impact of today’s advances and challenges, including explosive growth in molecular biology, sophisticated imaging techniques, and an increase in both pediatric[books.google.com] Watch online video demonstrations of ultrasound-guided and conventional pediatric regional blocks, airway management, cardiac anesthesia, single-lung ventilation, neonatal[books.google.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Carnitine Transporter Deficiency

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] , Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates, for assistance in the preparation of this report.[rarediseases.org] Laboratory studies Normal CK Elevated lactate and alanine in serum, urine and/or CSF [10] Treatment : mainly supportive References: [13] [14] [15] [16] [17] [11] [18] [10][amboss.com]

    Missing: Mutations in the Cystinosis Gene
  • Vitamin D Deficiency

    Hypocalcemic and hypercalcemic disorders in children . Current Problems in Pediatrics, Vol. 19, Issue. 10, p. 497. CrossRef Google Scholar Poskitt, E.M.E. 1988.[doi.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Sneddon's Syndrome

    mutation Alpers syndrome Dermatofibrosarcoma protuberans Aminoacylase 1 deficiency Neonatal adrenoleukodystrophy Nephropathic cystinosis Teebi Kaurah syndrome Factor XII[checkrare.com] MS and other acquired demyelinating disorders of the central nervous system.[yoran.office.ehime-u.ac.jp] […] congenital partial atresia of Crouzon syndrome Acrocephalopolydactylous dysplasia Perlman syndrome Chromosome 15q deletion Cardiomyopathy and deafness due to tRNA lysine gene[checkrare.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Acute Alcohol Intoxication

    The inactive ALDH2(2) allele is dominant , J Clin Invest , 1989 , vol. 83 (pg. 314 - 6 ) Diagnostic and Statistical Manual of Mental Disorders , 2000 4th ed Washington, DC[academic.oup.com] American Psychiatry Association Text Revision Estimated blood alcohol concentrations for child and adolescent drinking and their implications for screening instruments , Pediatrics[academic.oup.com]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria