Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation
Niemi, Anna-Kaisa, MD, PhD, Kim, Irene K., MD, Krueger, Casey E., PhD, Cowan, Tina M., PhD, Baugh, Nancy, MS, RD, Farrell, Rachel, MS, Bonham, Clark A., MD, Concepcion, Waldo, MD, Esquivel, Carlos O., MD, PhD, Enns, Gregory M., MB, ChB
Published in The Journal of pediatrics (01.06.2015)
Published in The Journal of pediatrics (01.06.2015)
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Journal Article
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome
Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F
Published in The New England journal of medicine (03.06.2021)
Published in The New England journal of medicine (03.06.2021)
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Journal Article
A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood
Moore, Tereza, Le, Anthony, Niemi, Anna-Kaisa, Kwan, Tony, Cusmano-Ozog, Krinstina, Enns, Gregory M., Cowan, Tina M.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2013)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2013)
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Journal Article
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome
Myers, Angela, Bernstein, Jonathan A., Brennan, Marie-Luise, Curry, Cynthia, Esplin, Edward D., Fisher, Jamie, Homeyer, Margaret, Manning, Melanie A., Muller, Eric A., Niemi, Anna-Kaisa, Seaver, Laurie H., Hintz, Susan R., Hudgins, Louanne
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
Analysis of functional variants in mitochondrial DNA of Finnish athletes
Kiiskilä, Jukka, Moilanen, Jukka S, Kytövuori, Laura, Niemi, Anna-Kaisa, Majamaa, Kari
Published in BMC genomics (29.10.2019)
Published in BMC genomics (29.10.2019)
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Journal Article
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status
Enns, Gregory M, Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K, Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M
Published in PloS one (18.06.2014)
Published in PloS one (18.06.2014)
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Journal Article
Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
Kaivola, Karri, Salmi, Samuli J, Jansson, Lilja, Launes, Jyrki, Hokkanen, Laura, Niemi, Anna-Kaisa, Majamaa, Kari, Lahti, Jari, Eriksson, Johan G, Strandberg, Timo, Laaksovirta, Hannu, Tienari, Pentti J
Published in Acta neuropathologica communications (09.11.2020)
Published in Acta neuropathologica communications (09.11.2020)
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Journal Article
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia
Splinter, Kimberly, Niemi, Anna-Kaisa, Cox, Rachel, Platt, Julia, Shah, Monisha, Enns, Gregory M., Kasahara, Mureo, Bernstein, Jonathan A.
Published in Journal of genetic counseling (01.10.2016)
Published in Journal of genetic counseling (01.10.2016)
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Journal Article
Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience
Kim, Irene K., Niemi, Anna-Kaisa, Krueger, Casey, Bonham, Clark A., Concepcion, Waldo, Cowan, Tina M., Enns, Gregory M., Esquivel, Carlos O.
Published in Pediatric transplantation (01.03.2013)
Published in Pediatric transplantation (01.03.2013)
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Journal Article
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Gomez-Ospina, Natalia, Scott, Anna I., Oh, Gia J., Potter, Donald, Goel, Veena V., Destino, Lauren, Baugh, Nancy, Enns, Gregory M., Niemi, Anna-Kaisa, Cowan, Tina M.
Published in Journal of inherited metabolic disease (01.11.2016)
Published in Journal of inherited metabolic disease (01.11.2016)
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Journal Article
A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects
Niemi, Anna-Kaisa, Moilanen, Jukka S, Tanaka, Masashi, Hervonen, Antti, Hurme, Mikko, Lehtimäki, Terho, Arai, Yasumichi, Hirose, Nobuyoshi, Majamaa, Kari
Published in European journal of human genetics : EJHG (01.02.2005)
Published in European journal of human genetics : EJHG (01.02.2005)
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Journal Article
Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?
Niemi, Anna‐Kaisa, Kwan, Andrea, Hudgins, Louanne, Cherry, Athena M., Manning, Melanie A.
Published in American journal of medical genetics. Part A (01.09.2012)
Published in American journal of medical genetics. Part A (01.09.2012)
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Journal Article
Pediatric Integrative Medicine
McClafferty, Hilary, Vohra, Sunita, Bailey, Michelle, Brown, Melanie, Esparham, Anna, Gerstbacher, Dana, Golianu, Brenda, Niemi, Anna-Kaisa, Sibinga, Erica, Weydert, Joy, Yeh, Ann Ming
Published in Pediatrics (Evanston) (01.09.2017)
Published in Pediatrics (Evanston) (01.09.2017)
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Journal Article
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes
NIEMI, Anna-Kaisa, MAJAMAA, Kari
Published in European journal of human genetics : EJHG (01.08.2005)
Published in European journal of human genetics : EJHG (01.08.2005)
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Journal Article