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1

Thymidine kinase 2 deficiency-induced mtDNA depletion in liver leads to defect β-oxidation and insufficient supply of ketone bodies and glucose for brain function

Sophie Curbo, Xiaoshan ZhouI, Kristina Kannisto, Ulrika von Döbeln, Kjell Hultenby, Sindra Isetun, Mats Gåfvels, Anna Karlsson

Journal:

Year:

2012

Language:

english

File:

PDF, 76 KB

english, 2012

2

Effect of Strength Training on Enzyme Activities and Fibre Characteristics in Human Skeletal Muscle

Alf Thorstensson, Bodil Hultén, Wilhelm von Döbeln, Jan Karlsson

Journal:

Acta Physiologica

Year:

1976

Language:

english

File:

PDF, 364 KB

english, 1976

3

Treatment of adrenoleukodystrophy with bone marrow transplantation

G Malm, O Ringdén, M Anvret, U von Döbeln, L Hagenfeldt, B Isberg, S Knuutila, I Nennesmo, J Winiarski, C Marcus

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 1.46 MB

english, 1997

4

OC-0610 Modelling of xerostomia after radiotherapy for head and neck cancer: a registry study

Onjukka, E., Mercke, C., Discacciati, A., Alexandersson von Döbeln, G., Björgvinsson, E., Carstens, H., Friesland, S., Gagliardi, G., Lenneby Helleday, C., Sjödin, H., Wickart Johansson, G., Lax, I.

Journal:

Radiotherapy and Oncology

Year:

2019

Language:

english

File:

PDF, 517 KB

english, 2019

5

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott–Aldrich syndrome

Borte, Stephan, Fasth, Anders, von Döbeln, Ulrika, Winiarski, Jacek, Hammarström, Lennart

Journal:

Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 399 KB

english, 2014

6

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)

Gunilla Malm, Britt Gustafsson, Gunilla Berglund, Maria Lindström, Karin Naess, Birgit Borgström, Ulrika Von Döbeln, Olle Ringdén

Journal:

Acta Paediatrica

Year:

2008

Language:

english

File:

PDF, 336 KB

english, 2008

7

Newborn screening for primary immunodeficiencies: beyond SCID and XLA

Stephan Borte, Ning Wang, Sólveig Óskarsdóttir, Ulrika von Döbeln, Lennart Hammarström

Journal:

Annals of the New York Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 660 KB

english, 2011

8

3-hydroxydicarboxylic aciduria—a fatty acid oxidation defect with severe prognosis

Lars Hagenfeldt, Ulrika von Döbeln, Elisabeth Holme, Jan Alm, Göran Brandberg, Erik Enocksson, Lennart Lindeberg

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 950 KB

english, 1990

9

Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

L. Hagenfeldt, N. Venizelos, U. Döbeln

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 186 KB

english, 1995

10

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

A. Ohlsson, J. Nasiell, U. von Döbeln

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 145 KB

english, 2007

11

Thymidine Kinase 2 Deficiency-Induced mtDNA Depletion in Mouse Liver Leads to Defect β-Oxidation

Zhou, Xiaoshan, Kannisto, Kristina, Curbo, Sophie, von Döbeln, Ulrika, Hultenby, Kjell, Isetun, Sindra, Gåfvels, Mats, Karlsson, Anna, Samuels, David C.

Journal:

Year:

2013

Language:

english

File:

PDF, 5.47 MB

english, 2013

12

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 968 KB

english, 2015

13

8 Neonatal Hyperammonemia Successfully Treated with Carbaglu® in a Neonate with N-Acetyl-Glutamate Syntase Deficiency

Alm, J, Nordenström, A, Hallberg, B, von Döbeln, U, Häberle, J

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 32 KB

english, 2004

14

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Barbaro, Michela, Ohlsson, Annika, Borte, Stephan, Jonsson, Susanne, Zetterström, Rolf H., King, Jovanka, Winiarski, Jacek, von Döbeln, Ulrika, Hammarström, Lennart

Journal:

Journal of Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 4.64 MB

english, 2017

15

Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden

Thilén, Astrid, Nordenström, Anna, Hagenfeldt, Lars, von Döbeln, Ulrika, Guthenberg, Claes, Larsson, Agne

Journal:

Year:

1998

Language:

english

File:

PDF, 326 KB

english, 1998

16

Erratum to “Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples” [Anal. Biochem. 311 (2002) 139–151]

Rolf Wibom, Lars Hagenfeldt, Ulrika von Döbeln

Journal:

Analytical Biochemistry

Year:

2003

Language:

english

File:

PDF, 47 KB

english, 2003

17

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

Nicole Lesko, Karin Naess, Rolf Wibom, Nicola Solaroli, Inger Nennesmo, Ulrika von Döbeln, Anna Karlsson, Nils-Göran Larsson

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 1.05 MB

english, 2010

18

Epidemiology of lysosomal storage diseases in Sweden

Hult, Malin, Darin, Niklas, von Döbeln, Ulrika, Månsson, Jan-Eric

Journal:

Acta Paediatrica

Year:

2014

Language:

english

File:

PDF, 292 KB

english, 2014

19

Antiepileptic drug treatment during pregnancy and neonatal screening results

K Wide, B Winbladh, C Guthenberg, U von Döbeln

Journal:

Acta Paediatrica

Year:

1996

Language:

english

File:

PDF, 157 KB

english, 1996

20

Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples

Rolf Wibom, Lars Hagenfeldt, Ulrika von Döbeln

Journal:

Analytical Biochemistry

Year:

2002

Language:

english

File:

PDF, 205 KB

english, 2002

21

Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Borte, S., von Dobeln, U., Fasth, A., Wang, N., Janzi, M., Winiarski, J., Sack, U., Pan-Hammarstrom, Q., Borte, M., Hammarstrom, L.

Journal:

Year:

2012

Language:

english

File:

PDF, 294 KB

english, 2012

22

Mitochondrial function in selected major depressive disorder patients

A. Gardner, A. Johansson, R. Wibom, I. Nennesmo, U. von Döbeln, L. Hagenfeldt, T. Hällström

Journal:

European Psychiatry

Year:

2002

Language:

english

File:

PDF, 289 KB

english, 2002

23

Retrospective Analysis of TREC Based Newborn Screening Results and Clinical Phenotypes in Infants with the 22q11 Deletion Syndrome

Lingman Framme, Jenny, Borte, Stephan, von Döbeln, Ulrika, Hammarström, Lennart, Óskarsdóttir, Sólveig

Journal:

Journal of Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 466 KB

english, 2014

24

Guidelines for newborn screening of primary immunodeficiency diseases

Borte, Stephan, von Döbeln, Ulrika, Hammarström, Lennart

Journal:

Current Opinion in Hematology

Year:

2013

Language:

english

File:

PDF, 244 KB

english, 2013

25

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

Gidlöf, Sebastian, Falhammar, Henrik, Thilén, Astrid, von Döbeln, Ulrika, Ritzén, Martin, Wedell, Anna, Nordenström, Anna

Journal:

The Lancet Diabetes & Endocrinology

Year:

2013

Language:

english

File:

PDF, 258 KB

english, 2013

26

92 THYHINE-URACILURIA – A DISEASE OR A F0RTUITI0US FINDING?

Haverkorn, Caroline, Blomquist, Hans Kson, Snellman, Kalle, Åhlman, Henrik, Von Döbeln, Ulrika, Hagenfeldt, Lars

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 152 KB

english, 1994

27

Population Structure in Contemporary Sweden—A Y-Chromosomal and Mitochondrial DNA Analysis

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

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 393 KB

english, 2009

28

Anthropometric Determination of Fat-Free Body Weight

Wilhelm von Döbeln

Journal:

Journal of Internal Medicine

Year:

1959

Language:

english

File:

PDF, 212 KB

english, 1959

29

Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

Tiina Tyni, Aarno Palotie, Lasse Viinikka, Leena Valanne, Matti K. Salo, Ulrika von Döbeln, Sandra Jackson, Ronald Wanders, Nikolaos Venizelos, Helena Pihko

Journal:

The Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 919 KB

english, 1997

30

Pulmonary function and cardiac stress test after multimodality treatment of esophageal cancer

von Döbeln, Gabriella Alexandersson, Nilsson, Magnus, Adell, Gunnar, Johnsen, Gjermund, Hatlevoll, Ingunn, Tsai, Jon, Lundell, Lars, Lund, Mikael, Lind, Pehr

Journal:

Practical Radiation Oncology

Year:

2015

Language:

english

File:

PDF, 242 KB

english, 2015

31

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

Andréasson, Mattias, Zetterström, Rolf H., von Döbeln, Ulrika, Wedell, Anna, Svenningsson, Per

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 761 KB

english, 2019

32

Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families

Elisabeth Svensson, Ulrika von Döbeln, Lars Hagenfeldt

Journal:

Year:

1991

Language:

english

File:

PDF, 680 KB

english, 1991

33

Increased lipolysis in LCHAD deficiency

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 278 KB

english, 2007

34

Nucleoside diphosphate kinase activity associated with ribonucleotide reducatase

Ulrika von Döbeln

Journal:

Biochemical and Biophysical Research Communications

Year:

1976

Language:

english

File:

PDF, 436 KB

english, 1976

35

Screening of half a million Swedish newborn infants for congenital adrenal hyperplasia

Larsson, Agne, Thilén, Astrid, Hagenfeldt, Lars, von Döbeln, Ulrika, Guthenberg, Claes

Journal:

Year:

1992

Language:

english

File:

PDF, 116 KB

english, 1992

36

Gunnar Jungner and the Principles and Practice of Screening for Disease

Jungner, Lars, Jungner, Ingmar, Engvall, Martin, Döbeln, Ulrika von

Journal:

International Journal of Neonatal Screening

Year:

2017

Language:

english

File:

PDF, 6.56 MB

english, 2017

37

Mitochondrial function in neuroleptic-free and medicated schizophrenia

A. Gardner, R. Wibom, I. Nennesmo, U. von Döbeln, H. Beier, L. Hagenfeldt, T. Hällström

Journal:

European Psychiatry

Year:

2002

Language:

english

File:

PDF, 154 KB

english, 2002

38

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

Borte, Stephan, Meeths, Marie, Liebscher, Ines, Krist, Kerstin, Nordenskjöld, Magnus, Hammarström, Lennart, von Döbeln, Ulrika, Henter, Jan-Inge, Bryceson, Yenan T.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

39

The ketogenic diet compensates for AGC1 deficiency and improves myelination

Dahlin, Maria, Martin, Daniel A., Hedlund, Zandra, Jonsson, Monica, von Döbeln, Ulrika, Wedell, Anna

Journal:

Year:

2015

Language:

english

File:

PDF, 410 KB

english, 2015

40

SCREENING OF 0.7 MILLION SWEDISH NEWBORN INFANTS FOR CONGENITAL ADRENAL HYPERPLASIA

Larsson, Agne, Thilén, Astrid, Hagenfeldt, Lars, Von Döbeln, Ulrika, Guthenberg, Claes

Journal:

Pediatric Research

Year:

1992

Language:

english

File:

PDF, 141 KB

english, 1992

41

Carbohydrate-deficient transferrin in galactosaemia

H. Stibler, U. von Döbeln, B. Kristiansson, C. Guthenberg

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 219 KB

english, 1997

42

Nocturnal differences in subcutaneous tissue glucose between forearm and abdominal sites during continuous glucose monitoring in normal subjects

A Von Dobeln, U Adamson, PE Lins

Journal:

Diabetes & Metabolism

Year:

2005

File:

PDF, 93 KB

2005

43

Visual Automated Fluorescence Electrophoresis Provides Simultaneous Quality, Quantity, and Molecular Weight Spectra for Genomic DNA from Archived Neonatal Blood Spots

Klassen, Tara L., Drabek, Janice, Tomson, Torjbörn, Sveinsson, Olafur, von Döbeln, Ulrika, Noebels, Jeffrey L., Goldman, Alicia M.

Journal:

The Journal of Molecular Diagnostics

Year:

2013

Language:

english

File:

PDF, 539 KB

english, 2013

44

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

45

Body composition, sinking force, and oxygen uptake of man treading water.

von Döbeln, W, Holmér, I

Journal:

Journal of Applied Physiology

Year:

1974

File:

PDF, 1.18 MB

1974

46

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1

Mårten Kyllerman, Ola Skjeldal, Ernst Christensen, Gudrun Hagberg, Elisabeth Holme, Tuula Lönnquist, Liselotte Skov, Terje Rotwelt, Ulrika von Döbeln

Journal:

European Journal of Paediatric Neurology

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

47

Fernandes J, Saudubray J-M and van den Berghe G, editors. Inborn Metabolic Diseases, Diagnosis and Treatment

Ulrika von Döbeln

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 83 KB

english, 1997

48

Corrigendum

Klassen, Tara L., Drabek, Janice, Tomson, Torjbörn, Sveinsson, Olafur, von Döbeln, Ulrika, Noebels, Jeffrey L., Goldman, Alicia M.

Journal:

Precambrian Research

Year:

1991

File:

PDF, 18 KB

1991

49

NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) USING 17-HYDROXYPROGESTERONE (17-OHP) ASSAYS OF DRIED BLOOD SPOTS

Larsson, A, Cursted, T, von Döbeln, U, Gustafsson, J, Hagenfeldt, L, Svensson, E

Journal:

Pediatric Research

Year:

1986

Language:

english

File:

PDF, 159 KB

english, 1986

50

Heterogeneity of disease‐causing variants in the Swedish galactosaemia population: Identification of 16 novel GALT variants

Ohlsson, Annika, Hunt, Mary, Wedell, Anna, Döbeln, Ulrika

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.48 MB

english, 2019

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