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Items: 1 to 20 of 21

1.

Near-Infrared Spectroscopy in the Diagnostic Evaluation of Mitochondrial Disorders: A Neonatal Intensive Care Unit Case Series.

Niemi AK, Chock VY.

J Pediatr. 2019 May;208:282-286. doi: 10.1016/j.jpeds.2019.01.022. Epub 2019 Mar 8.

PMID:
30853194
2.

Cinacalcet therapy in an infant with an R185Q calcium-sensing receptor mutation causing hyperparathyroidism: a case report and review of the literature.

Forman TE, Niemi AK, Prahalad P, Shi RZ, Nally LM.

J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):305-310. doi: 10.1515/jpem-2018-0307.

PMID:
30730839
3.

Pediatric Integrative Medicine.

McClafferty H, Vohra S, Bailey M, Brown M, Esparham A, Gerstbacher D, Golianu B, Niemi AK, Sibinga E, Weydert J, Yeh AM; SECTION ON INTEGRATIVE MEDICINE.

Pediatrics. 2017 Sep;140(3). pii: e20171961. doi: 10.1542/peds.2017-1961. Epub 2017 Aug 28.

4.

Review of Randomized Controlled Trials of Massage in Preterm Infants.

Niemi AK.

Children (Basel). 2017 Apr 3;4(4). pii: E21. doi: 10.3390/children4040021. Review.

5.

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM.

J Inherit Metab Dis. 2016 Nov;39(6):821-829. Epub 2016 Aug 3.

PMID:
27488560
6.

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

Splinter K, Niemi AK, Cox R, Platt J, Shah M, Enns GM, Kasahara M, Bernstein JA.

J Genet Couns. 2016 Oct;25(5):936-44. doi: 10.1007/s10897-015-9921-x. Epub 2015 Dec 14.

PMID:
26667650
7.

Reply: To PMID 25771389.

Niemi AK, Enns GM.

J Pediatr. 2015 Nov;167(5):1173-4. doi: 10.1016/j.jpeds.2015.08.031. Epub 2015 Sep 9. No abstract available.

PMID:
26362093
8.

Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

Niemi AK, Kim IK, Krueger CE, Cowan TM, Baugh N, Farrell R, Bonham CA, Concepcion W, Esquivel CO, Enns GM.

J Pediatr. 2015 Jun;166(6):1455-61.e1. doi: 10.1016/j.jpeds.2015.01.051. Epub 2015 Mar 11.

PMID:
25771389
9.

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.

Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Review.

PMID:
25250515
10.

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.

Enns GM, Moore T, Le A, Atkuri K, Shah MK, Cusmano-Ozog K, Niemi AK, Cowan TM.

PLoS One. 2014 Jun 18;9(6):e100001. doi: 10.1371/journal.pone.0100001. eCollection 2014.

11.

Abnormal hepatocellular mitochondria in methylmalonic acidemia.

Wilnai Y, Enns GM, Niemi AK, Higgins J, Vogel H.

Ultrastruct Pathol. 2014 Oct;38(5):309-14. doi: 10.3109/01913123.2014.921657. Epub 2014 Jun 16.

PMID:
24933007
12.

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.

Niemi AK, Brown C, Moore T, Enns GM, Cowan TM.

Mol Genet Metab Rep. 2014 Apr 1;1:129-132. eCollection 2014.

13.

A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.

Moore T, Le A, Niemi AK, Kwan T, Cusmano-Ozog K, Enns GM, Cowan TM.

J Chromatogr B Analyt Technol Biomed Life Sci. 2013 Jun 15;929:51-5. doi: 10.1016/j.jchromb.2013.04.004. Epub 2013 Apr 12.

PMID:
23660247
14.

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim IK, Niemi AK, Krueger C, Bonham CA, Concepcion W, Cowan TM, Enns GM, Esquivel CO.

Pediatr Transplant. 2013 Mar;17(2):158-67. doi: 10.1111/petr.12041. Epub 2013 Jan 24.

PMID:
23347504
15.

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Niemi AK, Kwan A, Hudgins L, Cherry AM, Manning MA.

Am J Med Genet A. 2012 Sep;158A(9):2328-35. doi: 10.1002/ajmg.a.35536. Epub 2012 Aug 7.

PMID:
22887577
16.

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA.

Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19.

PMID:
21932315
17.

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.

Niemi AK, Northrup H, Hudgins L, Bernstein JA.

Am J Med Genet A. 2011 Oct;155A(10):2534-7. doi: 10.1002/ajmg.a.34197. Epub 2011 Sep 9.

PMID:
21910228
18.

Importance of culturing primary lymphocytes at physiological oxygen levels.

Atkuri KR, Herzenberg LA, Niemi AK, Cowan T, Herzenberg LA.

Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4547-52. Epub 2007 Mar 5.

19.
20.

A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects.

Niemi AK, Moilanen JS, Tanaka M, Hervonen A, Hurme M, Lehtimäki T, Arai Y, Hirose N, Majamaa K.

Eur J Hum Genet. 2005 Feb;13(2):166-70.

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