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[Fabry disease in childhood].
Chabrol B, Mansour H, Cano A. Chabrol B, et al. Presse Med. 2007 Mar;36 Spec No 1:1S32-5. Presse Med. 2007. PMID: 17546765 Review. French.
Fabry disease is a lysosomal disease caused by the accumulation of glycosphingolipids, mainly the globotriaosylceromid (Gb3) in different body tissues, mostly the kidney, the heart and the brain. ...Even though Fabry disease is on x-linked disorder, the carrier females can …
Fabry disease is a lysosomal disease caused by the accumulation of glycosphingolipids, mainly the globotriaosylceromid (Gb3) in diffe …
[Metabolic diseases. Inherited metabolic diseases: importance of diagnosis].
Chabrol B, Cano A. Chabrol B, et al. Ann Biol Clin (Paris). 2006 Nov-Dec;64(6):581-2. Ann Biol Clin (Paris). 2006. PMID: 17256234 French. No abstract available.
Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia.
Cano A, Ovaert C, Vianey-Saban C, Chabrol B. Cano A, et al. Pediatr Cardiol. 2008 Jan;29(1):163-5. doi: 10.1007/s00246-007-9051-9. Epub 2007 Oct 10. Pediatr Cardiol. 2008. PMID: 17926086
Early recognition of this disorder in a context of life-threatening cardiac failure and treatment with carnitine can be lifesaving in this inborn error of fatty acid oxidation. Here we describe a boy with a severe cardiomyopathy and severe anemia who improved …
Early recognition of this disorder in a context of life-threatening cardiac failure and treatment with carnitine can be lifesaving in …
[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B. Ticus I, et al. Arch Pediatr. 2008 Aug;15(8):1296-9. doi: 10.1016/j.arcped.2008.04.024. Epub 2008 Jun 16. Arch Pediatr. 2008. PMID: 18556184 French.
A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency syndrome. ...CSF and serum glucose levels measured simultaneously showed a CSF/serum glucose ratio of 0.39. Molecular analysis identifi
A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency sy
[Mucopolysaccharidoses: diagnosis and management].
Chabrol B, Cano A. Chabrol B, et al. Arch Pediatr. 2014 Jun;21 Suppl 1:S1-3. doi: 10.1016/S0929-693X(14)72252-3. Arch Pediatr. 2014. PMID: 25063378 French. No abstract available.
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.
Chavany J, Cano A, Roquelaure B, Bourgeois P, Boubnova J, Gaignard P, Hoebeke C, Reynaud R, Rhomer B, Slama A, Badens C, Chabrol B, Fabre A. Chavany J, et al. Arch Pediatr. 2020 Apr;27(3):155-159. doi: 10.1016/j.arcped.2020.01.003. Epub 2020 Mar 4. Arch Pediatr. 2020. PMID: 32146038
Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. ...We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recu …
Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, i …
[Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation].
Di Meglio C, Cano A, Milh M, Girard N, Burglen L, Chabrol B. Di Meglio C, et al. Arch Pediatr. 2014 Jan;21(1):73-7. doi: 10.1016/j.arcped.2013.10.023. Epub 2013 Dec 8. Arch Pediatr. 2014. PMID: 24321870 French.
Acute necrotizing encephalopathy is a rare neurologic disease most often triggered by a febrile viral event affecting an otherwise healthy infant. ...Two of them presented with acute necrotizing encephalopathy at the age of 9 months in the immediate aftermath of …
Acute necrotizing encephalopathy is a rare neurologic disease most often triggered by a febrile viral event affecting an other …
Early morphological diagnosis of Farber disease.
Nivaggioni V, Cano A, Arnoux I, Michel G, Loosveld M. Nivaggioni V, et al. Br J Haematol. 2016 Oct;175(2):189. doi: 10.1111/bjh.14265. Epub 2016 Jul 29. Br J Haematol. 2016. PMID: 27471081 No abstract available.
Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW. Chabrol B, et al. J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30. J Med Genet. 2008. PMID: 18234729
Fine mapping of the breakpoint revealed a deletion of 77.4 kb, including three genes: SLC3A1, PREPL and C2orf34. Features not present in classical HCS were a mild/moderate mental retardation and a respiratory chain complex IV deficiency documented in patient …
Fine mapping of the breakpoint revealed a deletion of 77.4 kb, including three genes: SLC3A1, PREPL and C2orf34. Features not present …
[Glucose transporter type 1 (GLUT-1) deficiency].
Cano A, Ticus I, Chabrol B. Cano A, et al. Rev Neurol (Paris). 2008 Nov;164(11):896-901. doi: 10.1016/j.neurol.2008.02.033. Epub 2008 Apr 3. Rev Neurol (Paris). 2008. PMID: 18808765 Review. French.
The hallmark of the disease is a low glucose concentration in the cerebrospinal fluid in a presence of normoglycemia (cerebrospinal fluid/blood glucose ratio less than 0.4). ...Several heterozygous mutations, with a majority of de novo mutations, resulting in …
The hallmark of the disease is a low glucose concentration in the cerebrospinal fluid in a presence of normoglycemia (cerebros …
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