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Volumn 90, Issue 3, 2012, Pages 259-262

Aminoacidopathies and organic acidurias in Tunisia: A retrospective survey over 23 years;Aminoacidopathies et aciduries organiques en Tunisie: Étude rétrospective sur 23 ans

Author keywords

Acidurias; Amino acids; Epidemiology Tunisia; Inborn errors of metabolism; Incidence; Organic; Pathology; Retrospective study

Indexed keywords

2 HYRDOXY GLUTARIC ACIDURIA; ACIDURIA; AMINOACIDOPATHY; ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GAS CHROMATOGRAPHY; HEALTH SURVEY; HUMAN; HYPERGLYCINEMIA; INCIDENCE; ION EXCHANGE CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MASS SPECTROMETER; METHYLMALONIC ACIDURIA; ORGANIC ACIDURIA; PROPIONIC ACIDURIA; TUNISIA; TYROSINEMIA; TYROSINEMIA TYPE 1;

EID: 84859534187     PISSN: 00414131     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (22)

References (21)
  • 1
    • 0036128631 scopus 로고    scopus 로고
    • Pattern of inborn errors of metabolism in an Omani population of Arabian Peninsula
    • Joshi SN, Hashim J, Venugopalan P. Pattern of inborn errors of metabolism in an Omani population of Arabian Peninsula. Ann Trop Paediatr 2002; 22:93-96.
    • (2002) Ann Trop Paediatr , vol.22 , pp. 93-96
    • Joshi, S.N.1    Hashim, J.2    Venugopalan, P.3
  • 2
    • 33645103135 scopus 로고    scopus 로고
    • Consanguinity: Implications for practice, research and policy
    • Teebi A, El-Shanti H. Consanguinity: implications for practice, research and policy. Lancet 2006; 367:970-71.
    • (2006) Lancet , vol.367 , pp. 970-971
    • Teebi, A.1    El-Shanti, H.2
  • 3
    • 0038796646 scopus 로고
    • When cousins marry: A review of consanguinity in the Middle East
    • Bittles AH. When cousins marry: a review of consanguinity in the Middle East. Prespect Hum Biol 1995; 1:71-83.
    • (1995) Prespect Hum Biol , vol.1 , pp. 71-83
    • Bittles, A.H.1
  • 4
    • 33750614450 scopus 로고    scopus 로고
    • The incidence of inherited metabolic disorders in the West Mildlands, UK
    • Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Mildlands, UK. Arch Dis Child 2006; 91:896-99.
    • (2006) Arch Dis Child , vol.91 , pp. 896-899
    • Sanderson, S.1    Green, A.2    Preece, M.A.3    Burton, H.4
  • 6
    • 0026676757 scopus 로고
    • 25 years Austrian screening program for inborn errors of metabolism at the Vienna University
    • Widhalm K. 25 years Austrian screening program for inborn errors of metabolism at the Vienna University. Wien Klin Wochenschr 1992; 104:510-3.
    • (1992) Wien Klin Wochenschr , vol.104 , pp. 510-513
    • Widhalm, K.1
  • 7
    • 34548488230 scopus 로고    scopus 로고
    • Newborn screening: Experiences in the Middle East and North Africa
    • Sadallah AA, Rached MS. Newborn screening: Experiences in the Middle East and North Africa. J Inherit Metab Dis 2007; 30:482-9.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 482-489
    • Sadallah, A.A.1    Rached, M.S.2
  • 8
    • 68049092810 scopus 로고    scopus 로고
    • Phenylketonuria in Tunisian institutions for the mentally handicapped
    • Khemir S, Tebib N, Nasrallah F et al. Phenylketonuria in Tunisian institutions for the mentally handicapped. Arch Dis Child. 2009; 94:647-8.
    • (2009) Arch Dis Child , vol.94 , pp. 647-648
    • Khemir, S.1    Tebib, N.2    Nasrallah, F.3
  • 9
    • 80053564608 scopus 로고    scopus 로고
    • Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment
    • Khemir S, Elasmi M, Sanhaji H et al. Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment. Clin Neurol Neurosurg 2011; 113: 727-30.
    • (2011) Clin Neurol Neurosurg , vol.113 , pp. 727-730
    • Khemir, S.1    Elasmi, M.2    Sanhaji, H.3
  • 12
    • 77954981068 scopus 로고    scopus 로고
    • Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008
    • Moammar H, Cheriyan G, Mathew R, Al-Sannaa N. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008. Ann Saudi Med. 2010; 30:271-7.
    • (2010) Ann Saudi Med , vol.30 , pp. 271-277
    • Moammar, H.1    Cheriyan, G.2    Mathew, R.3    Al-Sannaa, N.4
  • 13
    • 2342605834 scopus 로고
    • Neurometabolic diseases at a national referral center: Five years experience at the King Faisal specialist hospital and research center
    • Ozand PT, Devol EB, Gascon GG. Neurometabolic diseases at a national referral center: Five years experience at the King Faisal specialist hospital and research center. J Child Neurol 1992; S7:4-11.
    • (1992) J Child Neurol , vol.S7 , pp. 4-11
    • Ozand, P.T.1    Devol, E.B.2    Gascon, G.G.3
  • 14
    • 0028605803 scopus 로고
    • Experience of King Faisal specialist hospital and research center with Saudi organic acid disorders
    • Rashed M, Ozand PT, Al Aqeel A, Gascon GG. Experience of King Faisal specialist hospital and research center with Saudi organic acid disorders. Brain Dev 1994; S16:1-6.
    • (1994) Brain Dev , vol.S16 , pp. 1-6
    • Rashed, M.1    Ozand, P.T.2    Al Aqeel, A.3    Gascon, G.G.4
  • 15
    • 0031671795 scopus 로고    scopus 로고
    • Diagnosis of inborn errors of metabolism by tandem mass spectrometry
    • Ozand PT. Diagnosis of inborn errors of metabolism by tandem mass spectrometry. Ann Saudi Med 1998; 18:234-8.
    • (1998) Ann Saudi Med , vol.18 , pp. 234-238
    • Ozand, P.T.1
  • 16
    • 34147101125 scopus 로고    scopus 로고
    • Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti Infants
    • Abdel-Hamid M, Tisocki K, Sharaf L, Ramadan D. Development, validation and application of tandem mass spectrometry for screening of inborn metabolic disorders in Kuwaiti Infants. Med Princ Pract 2007; 16:215-21.
    • (2007) Med Princ Pract , vol.16 , pp. 215-221
    • Abdel-Hamid, M.1    Tisocki, K.2    Sharaf, L.3    Ramadan, D.4
  • 17
    • 0036220093 scopus 로고    scopus 로고
    • Inborn errors of metabolism in the Italian pediatric population: A retrospective survey
    • Carlo Dionisi V, Risso C, Burlina Ab et al. Inborn errors of metabolism in the Italian pediatric population: a retrospective survey. J Pediatr 2002; 3:321-7.
    • (2002) J Pediatr , vol.3 , pp. 321-327
    • Carlo, D.V.1    Risso, C.2    Ab, B.3
  • 18
    • 33748572321 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000; 105:e10.
    • (2000) Pediatrics , vol.105
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 19
    • 0032570556 scopus 로고    scopus 로고
    • Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil
    • Simoni RE, Oliveira SPH, Grassiano DM, et al. Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil. Early Hum Dev 1998; 50:305-11.
    • (1998) Early Hum Dev , vol.50 , pp. 305-311
    • Simoni, R.E.1    Oliveira, S.P.H.2    Grassiano, D.M.3
  • 21
    • 54949116179 scopus 로고    scopus 로고
    • Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry
    • Han LS, Ye J, Qiu WJ et al. Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry. Zhonghua Yi Xue Za Zhi 2008; 88:2122-6.
    • (2008) Zhonghua Yi Xue Za Zhi , vol.88 , pp. 2122-2126
    • Han, L.S.1    Ye, J.2    Qiu, W.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.