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| Feier,F.H.; Miura,I.K.; Fonseca,E.A.; Porta,G.; Pugliese,R.; Porta,A.; Schwartz,I.V.D.; Margutti,A.V.B.; Camelo Jr,J.S.; Yamaguchi,S.N.; Taveira,A.T.; Candido,H.; Benavides,M.; Danesi,V.; Guimaraes,T.; Kondo,M.; Chapchap,P.; Neto,J. Seda. |
| Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, andDBT genes) showed that the MSUD... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Heterozygous donor; Metabolic disease; Branched-chain ketoacid dehydrogenase mutation; Leucine; Genotype. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000600522 |
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| Vieira Neto,E.; Maia Filho,H.S.; Monteiro,C.B.; Carvalho,L.M.; Tonon,T.; Vanz,A.P.; Schwartz,I.V.D.; Ribeiro,M.G.. |
| Early dietary treatment of phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality of life (HRQoL) of PKU patients has been reported as unaffected in high-income countries, there are scarce data concerning HRQoL and adherence to treatment of PKU children and adolescents from Brazil. The present study compared HRQoL scores in core dimensions of Brazilian early-treated PKU pediatric patients with those of a reference population, and explored possible relationships between adherence to treatment and HRQoL. Early-treated PKU pediatric patient HRQoL was evaluated by self- and parent-proxy reports of the Pediatric Quality of Life Inventory (PedsQL) core scales. Adherence... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Phenylketonuria; Quality of life; Questionnaires; Patient compliance; Diet therapy. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000200613 |
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| Castilhos,R.M.; Blank,D.; Netto,C.B.O.; Souza,C.F.M.; Fernandes,L.N.T.; Schwartz,I.V.D.; Giugliani,R.; Jardim,L.B.. |
| Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Japanese Orthopaedic Association; Severity Score System for Progressive Myelopathy; Mucopolysaccharidosis; Mucolipidosis; Adrenomyeloneuropathy; Progressive myelopathies. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000700001 |
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