Search | VHL CLAP/WR-PAHO/WHO

1.

Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind, C Bieneck; Nordenström, A; Ask, S; von Döbeln, U; Gustafsson, J; Stenlid, M Halldin.

J Inherit Metab Dis ; 38(2): 315-22, 2015 Mar.

Article in English | MEDLINE | ID: mdl-25141826

2.

Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind, C Bieneck; Nordenström, A; Ask, S; von Döbeln, U; Gustafsson, J; Stenlid, M Halldin.

J Inherit Metab Dis ; 38(2): 377, 2015 Mar.

Article in English | MEDLINE | ID: mdl-25413955

3.

Population structure in contemporary Sweden--a Y-chromosomal and mitochondrial DNA analysis.

Lappalainen, T; Hannelius, U; Salmela, E; von Döbeln, U; Lindgren, C M; Huoponen, K; Savontaus, M-L; Kere, J; Lahermo, P.

Ann Hum Genet ; 73(1): 61-73, 2009 Jan.

Article in English | MEDLINE | ID: mdl-19040656

4.

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri, R; Rimoldi, M; Burlina, A B; Koskull, S; Perletti, C; Heese, B; von Döbeln, U; Mereghetti, P; Di Meo, I; Invernizzi, F; Zeviani, M; Uziel, G; Tiranti, V.

J Med Genet ; 45(7): 473-8, 2008 Jul.

Article in English | MEDLINE | ID: mdl-18593870

5.

Increased neonatal thyrotropin in Down syndrome.

Myrelid, A; Jonsson, B; Guthenberg, C; von Döbeln, U; Annerén, G; Gustafsson, J.

Acta Paediatr ; 98(6): 1010-3, 2009 Jun.

Article in English | MEDLINE | ID: mdl-19239410

6.

Serum amino acid profile in patients with acute pancreatitis.

Sandstrom, P; Trulsson, L; Gasslander, T; Sundqvist, T; von Dobeln, U; Svanvik, J.

Amino Acids ; 35(1): 225-31, 2008 Jun.

Article in English | MEDLINE | ID: mdl-17520324

7.

Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333W.

Ohlsson, A; Nasiell, J; von Döbeln, U.

J Inherit Metab Dis ; 30(1): 105, 2007 Feb.

Article in English | MEDLINE | ID: mdl-17143577

8.

Increased lipolysis in LCHAD deficiency.

Halldin, M U; Forslund, A; von Döbeln, U; Eklund, C; Gustafsson, J.

J Inherit Metab Dis ; 30(1): 39-46, 2007 Feb.

Article in English | MEDLINE | ID: mdl-17160563

9.

Phenylketonuria screening registry as a resource for population genetic studies.

Hannelius, U; Lindgren, C M; Melén, E; Malmberg, A; von Dobeln, U; Kere, J.

J Med Genet ; 42(10): e60, 2005 Oct.

Article in English | MEDLINE | ID: mdl-16199543

10.

Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.

Strandqvist, A; Haglind, C Bieneck; Zetterström, R H; Nemeth, A; von Döbeln, U; Stenlid, M Halldin; Nordenström, A.

JIMD Rep ; 28: 75-84, 2016.

Article in English | MEDLINE | ID: mdl-26545880

11.

Gonadal failure in young women and galactose-1-phosphate uridyl transferase activity.

Hagenfeldt, K; von Döbeln, U; Hagenfeldt, L.

Fertil Steril ; 51(1): 177-8, 1989 Jan.

Article in English | MEDLINE | ID: mdl-2535985

12.

Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12-p21.1.

Forsgren, L; Libelius, R; Holmberg, M; von Döbeln, U; Wibom, R; Heijbel, J; Sandgren, O; Holmgren, G.

J Neurol Sci ; 144(1-2): 91-8, 1996 Dec.

Article in English | MEDLINE | ID: mdl-8994109

13.

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

de Bruin, E; Loeber, J G; Meijer, A; Castillo, G Martinez; Cepeda, M L Granados; Torres-Sepúlveda, M Rosario; Borrajo, G J C; Caggana, M; Giguere, Y; Meyer, M; Fukushi, M; Devi, A R Rama; Khneisser, I; Vilarinho, L; von Döbeln, U; Torresani, T; Mackenzie, J; Zutt, I; Schipper, M; Elvers, L H; Koopmans, M P G.

J Clin Virol ; 61(1): 74-80, 2014 Sep.

Article in English | MEDLINE | ID: mdl-25017954

14.

Lethal autosomal recessive syndrome with intrauterine growth retardation, intra- and extrahepatic biliary atresia, and esophageal and duodenal atresia.

Annerén, G; Meurling, S; Lilja, H; Wallander, J; von Döbeln, U.

Am J Med Genet ; 78(3): 306-7, 1998 Jul 07.

Article in English | MEDLINE | ID: mdl-9677074

15.

Fatty acid oxidation defects.

von Döbeln, U.

Acta Paediatr Suppl ; 82 Suppl 389: 88-90, 1993 Jun.

Article in English | MEDLINE | ID: mdl-8374203

16.

Consensus statement on pathology.

Hirvonen, J; Gidlund, E; von Döbeln, U; Rognum, T.

Acta Paediatr Suppl ; 82 Suppl 389: 91-2, 1993 Jun.

Article in English | MEDLINE | ID: mdl-8374204

17.

[B12 deficiency in breast-fed children. Maternal deficiency may cause severe symptoms in children]. / B12-brist hos ammade barn. Brist från moder kan ge barn svåra symtom.

Navér, L; von Döbeln, U; Hagenfeldt, L.

Lakartidningen ; 92(37): 3331-4, 1995 Sep 13.

Article in Swedish | MEDLINE | ID: mdl-7674731

18.

[Acute metabolic critical conditions in hereditary metabolic diseases]. / Akuta metaboliska kristillstånd vid ärftliga ämnesomsättningssjukdomar.

von Döbeln, U; Larsson, A; Hagenfeldt, L.

Lakartidningen ; 86(35): 2849-50, 1989 Aug 30.

Article in Swedish | MEDLINE | ID: mdl-2796465

19.

[New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered]. / Nya möjligheter för barn med Smith-Lemli-Opitz syndrom. Defekt upptäckt i kolesterolsyntesen.

Starck, L; Björkhem, I; Lund, E; von Döbeln, U.

Lakartidningen ; 92(37): 3325-6, 3329, 1995 Sep 13.

Article in Swedish | MEDLINE | ID: mdl-7674730

20.

[Adrenoleukodystrophy. A disease of current interest and many aspects]. / Adrenoleukodystrofi. Aktuell sjukdom med många ansikten.

Kyllerman, M; Blennow, G; Månsson, J E; Wahlström, J; von Döbeln, U.

Lakartidningen ; 91(1-2): 54-6, 1994 Jan 05.

Article in Swedish | MEDLINE | ID: mdl-8289555

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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