270 related articles for article (PubMed ID: 27393412)
1. Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C; Acquaviva C; Cheillan D; Collardeau-Frachon S; Guibaud L; Pagan C; Pettazzoni M; Piraud M; Lamazière A; Froissart R
J Inherit Metab Dis; 2016 Sep; 39(5):611-624. PubMed ID: 27393412
[TBL] [Abstract][Full Text] [Related]
2. [Prenatal symptoms and diagnosis of inherited metabolic diseases].
Brassier A; Ottolenghi C; Boddaert N; Sonigo P; Attié-Bitach T; Millischer-Bellaiche AE; Baujat G; Cormier-Daire V; Valayannopoulos V; Seta N; Piraud M; Chadefaux-Vekemans B; Vianey-Saban C; Froissart R; de Lonlay P
Arch Pediatr; 2012 Sep; 19(9):959-69. PubMed ID: 22884749
[TBL] [Abstract][Full Text] [Related]
3. Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Collardeau-Frachon S; Cordier MP; Rossi M; Guibaud L; Vianey-Saban C
J Inherit Metab Dis; 2016 Sep; 39(5):597-610. PubMed ID: 27106218
[TBL] [Abstract][Full Text] [Related]
4. Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.
Guibaud L; Collardeau-Frachon S; Lacalm A; Massoud M; Rossi M; Cordier MP; Vianey-Saban C
J Inherit Metab Dis; 2017 Jan; 40(1):103-112. PubMed ID: 27853988
[TBL] [Abstract][Full Text] [Related]
5. Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Ramsay SL; Maire I; Bindloss C; Fuller M; Whitfield PD; Piraud M; Hopwood JJ; Meikle PJ
Mol Genet Metab; 2004 Nov; 83(3):231-8. PubMed ID: 15542394
[TBL] [Abstract][Full Text] [Related]
6. Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).
Piraud M; Froissart R; Mandon G; Bernard A; Maire I
Clin Chim Acta; 1996 Apr; 248(2):143-55. PubMed ID: 8740579
[TBL] [Abstract][Full Text] [Related]
7. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Kooper AJ; Janssens PM; de Groot AN; Liebrand-van Sambeek ML; van den Berg CJ; Tan-Sindhunata GB; van den Berg PP; Bijlsma EK; Smits AP; Wevers RA
Clin Chim Acta; 2006 Sep; 371(1-2):176-82. PubMed ID: 16674934
[TBL] [Abstract][Full Text] [Related]
8. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].
Zhang WM; Shi HP; Li BT; Zhao SM; Qi QW; Sun NH; Huang SZ
Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):644-7. PubMed ID: 17217652
[TBL] [Abstract][Full Text] [Related]
9. Clinical approach to treatable inborn metabolic diseases: an introduction.
Saudubray JM; Sedel F; Walter JH
J Inherit Metab Dis; 2006; 29(2-3):261-74. PubMed ID: 16763886
[TBL] [Abstract][Full Text] [Related]
10. Inborn errors of metabolism in infancy: a guide to diagnosis.
Burton BK
Pediatrics; 1998 Dec; 102(6):E69. PubMed ID: 9832597
[TBL] [Abstract][Full Text] [Related]
11. Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.
Lefebvre G; Wehbe G; Heron D; Vautjoer Brouzes D; Choukroun JB; Darbois Y
Genet Couns; 1999; 10(3):277-84. PubMed ID: 10546100
[TBL] [Abstract][Full Text] [Related]
12. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
Rossiter JP; Hofman KJ; Kelley RI
Am J Med Genet; 1995 Apr; 56(3):272-5. PubMed ID: 7778588
[TBL] [Abstract][Full Text] [Related]
13. Intrauterine diagnosis of biochemical disorders.
Burton BK
Semin Perinatol; 1980 Jul; 4(3):179-87. PubMed ID: 6932103
[No Abstract] [Full Text] [Related]
14. Antenatal therapy of Smith-Lemli-Opitz syndrome.
Irons MB; Nores J; Stewart TL; Craigo SD; Bianchi DW; D'Alton ME; Tint GS; Salen G; Bradley LA
Fetal Diagn Ther; 1999; 14(3):133-7. PubMed ID: 10364662
[TBL] [Abstract][Full Text] [Related]
15. Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Sudrié-Arnaud B; Marguet F; Patrier S; Martinovic J; Louillet F; Broux F; Charbonnier F; Dranguet H; Coutant S; Vezain M; Lanos R; Tebani A; Fuller M; Lamari F; Chambon P; Brehin AC; Trestard L; Tournier I; Marret S; Verspyck E; Laquerrière A; Bekri S
Clin Chim Acta; 2018 Jun; 481():1-8. PubMed ID: 29476731
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
Kratz LE; Kelley RI
Am J Med Genet; 1999 Feb; 82(5):376-81. PubMed ID: 10069707
[TBL] [Abstract][Full Text] [Related]
17. Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
Wamelink MM; Struys EA; Valayannopoulos V; Gonzales M; Saudubray JM; Jakobs C
Prenat Diagn; 2008 May; 28(5):460-2. PubMed ID: 18444224
[No Abstract] [Full Text] [Related]
18. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis.
Angle B; Tint GS; Yacoub OA; Clark AL
Am J Med Genet; 1998 Dec; 80(4):322-6. PubMed ID: 9856557
[TBL] [Abstract][Full Text] [Related]
19. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
Parker EI; Xing M; Moreno-De-Luca A; Harmouche E; Terk MR
Br J Radiol; 2014 Jan; 87(1033):20130467. PubMed ID: 24234586
[TBL] [Abstract][Full Text] [Related]
20. Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders.
Stellaard F; Kleijer WJ; Wanders RJ; Schutgens RB; Jakobs C
J Inherit Metab Dis; 1991; 14(3):353-6. PubMed ID: 1770790
[No Abstract] [Full Text] [Related]
[Next] [New Search]