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Items: 1 to 20 of 148

1.

[Diagnosis of metabolic coma in children].

Poggi-Travert F, Héron B, Billette de Villemeur T, Spada M, Jouvet P, Charpentier C, Rabier D, Kamoun P, Saudubray JM.

Arch Pediatr. 1994 Sep;1(9):843-51. Review. French.

PMID:
7842129
2.

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK.

Pediatrics. 1998 Dec;102(6):E69. Review.

PMID:
9832597
3.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
4.

[The onset of psychiatric disorders and Wilson's disease].

Benhamla T, Tirouche YD, Abaoub-Germain A, Theodore F.

Encephale. 2007 Dec;33(6):924-32. doi: 10.1016/j.encep.2006.08.009. French.

PMID:
18789784
5.

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D.

J Inherit Metab Dis. 2007 Oct;30(5):631-41. Review.

PMID:
17694356
6.

[Cobalamin metabolism disorders in adult patients].

Thauvin-Robinet C, Roze E.

Rev Neurol (Paris). 2007 Oct;163(10):911-8. Review. French.

PMID:
18033027
7.

[Treatable hereditary neuro-metabolic diseases].

Sedel F, Lyon-Caen O, Saudubray JM.

Rev Neurol (Paris). 2007 Oct;163(10):884-96. Review. French.

PMID:
18033024
8.

Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula.

Fattal-Valevski A, Kesler A, Sela BA, Nitzan-Kaluski D, Rotstein M, Mesterman R, Toledano-Alhadef H, Stolovitch C, Hoffmann C, Globus O, Eshel G.

Pediatrics. 2005 Feb;115(2):e233-8.

PMID:
15687431
9.

[Urea cycle disorders in adult patients].

Maillot F, Crenn P.

Rev Neurol (Paris). 2007 Oct;163(10):897-903. Review. French.

PMID:
18033025
10.

[Metabolic emergencies: late acute neurologic and psychiatric presentation].

Touati G, Delonlay P, Barnerias C, Beyler C, Saudubray JM.

Arch Pediatr. 2003 May;10 Suppl 1:42s-46s. French. No abstract available.

PMID:
14509736
11.

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

Iyer H, Sen M, Prasad C, Rupar CA, Lindsay RM.

Hemodial Int. 2012 Jan;16(1):95-100. doi: 10.1111/j.1542-4758.2011.00591.x.

PMID:
22099885
12.

Clinical approach to treatable inborn metabolic diseases: an introduction.

Saudubray JM, Sedel F, Walter JH.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):261-74. Review.

PMID:
16763886
13.

[Inborn errors of metabolism with neurological manifestations in the neonatal period].

Campistol J.

Medicina (B Aires). 2007;67(6 Pt 1):561-8. Review. Spanish.

PMID:
18422082
14.

[CNS disorders caused by metabolic disorders].

Ohya N.

No To Hattatsu. 1991 Mar;23(2):171-6. Japanese.

PMID:
2012702
15.

Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations.

Legras A, Labarthe F, Maillot F, Garrigue MA, Kouatchet A, Ogier de Baulny H.

Crit Care Med. 2002 Jan;30(1):241-4.

PMID:
11902270
16.

Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.

Feillet F, Steinmann G, Vianey-Saban C, de Chillou C, Sadoul N, Lefebvre E, Vidailhet M, Bollaert PE.

Intensive Care Med. 2003 Sep;29(9):1594-7.

PMID:
12897989
17.

Clinical approach to inherited metabolic disorders in neonates.

Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A.

Biol Neonate. 1990;58 Suppl 1:44-53. Review.

PMID:
2265219
18.

Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause.

Chiaratti de Oliveira A, dos Santos AM, Martins AM, D'Almeida V.

Sao Paulo Med J. 2001 Sep 6;119(5):160-4.

19.

[Hyperammonemia type II as an example of urea cycle disorder].

Hawrot-Kawecka AM, Kawecki GP, Duława J.

Wiad Lek. 2006;59(7-8):512-5. Review. Polish.

PMID:
17209350
20.

Inborn errors of metabolism and motor disturbances in children.

García-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann GF.

J Inherit Metab Dis. 2009 Oct;32(5):618-29. doi: 10.1007/s10545-009-1194-9. Review.

PMID:
19731074

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