Publications by authors named "Jan Alm"

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The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin.
Friedrich K Trefz, Ania C Muntau, Florian B Lagler, Flavie Moreau, Jan Alm

JIMD Rep· June 2015

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Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
Cristine Åsberg, Ola Hjalmarson, Jan Alm, Tommy Martinsson, Johan Waldenström

J Inherit Metab Dis· December 2010

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The Adolescent Adjustment Profile (AAP) in comparisons of patients with obesity, phenylketonuria or neurobehavioural disorders.
Gunilla Maria Olsson, Staffan Mårild, Jan Alm, Ulf Brodin, Per-Anders Rydelius

Nord J Psychiatry· July 2008

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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Henrik B T Christesen, Nicholas D Tribble, Anders Molven, Juveria Siddiqui, Tone Sandal, Jan Alm

Eur J Endocrinol· July 2008

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Acute liver failure in a child with Epstein-Barr virus infection and undiagnosed glycerol kinase deficiency, mimicking hemophagocytic lymphohistiocytosis.
Anna Nordenström, Christina Hellerud, Sven Lindstedt, Jan Alm, Björn Fischler

J Pediatr Gastroenterol Nutr· July 2008

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Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up.
Kristina Teär Fahnehjelm, Gerd Holmström, Liu Ying, Charlotte Bieneck Haglind, Anna Nordenström, Jan Alm

Acta Ophthalmol· May 2008

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Rapid genetic analysis in congenital hyperinsulinism.
Henrik B T Christesen, Klaus Brusgaard, Jan Alm, Sture Sjöblad, Khalid Hussain

Horm Res· May 2007

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The Swedish WAIS-R factor structure and cognitive profiles for adults with dyslexia.
Jan Alm, Alan S Kaufman

J Learn Disabil· November 2004

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[Cooperation reduces the risks of thyroid disease in pregnancy. Also mild maternal hypothyroidism can threaten the neurological development of the fetus].
Annika Janson, Jan Alm, Katarina Bremme, Lottie Skjöldebrand-Sparre, Olle Söder

Lakartidningen· February 2002

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