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Items: 1 to 50 of 184

1.

Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD).

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Bowden A, Chen W, Chen CY, Cataldo J, Marsden D, Kakkis E.

J Inherit Metab Dis. 2019 Jan;42(1):169-177. doi: 10.1002/jimd.12038.

PMID:
30740733
2.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.

Mol Genet Metab. 2019 Jan 22. pii: S1096-7192(18)30742-X. doi: 10.1016/j.ymgme.2019.01.016. [Epub ahead of print]

PMID:
30718057
3.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M.

Transl Sci Rare Dis. 2018 Dec 20;3(3-4):157-170. doi: 10.3233/TRD-180031.

4.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR.

Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11.

PMID:
30548380
5.

Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.

Almontashiri NAM, Berry GT, Majzoub J, Peake RWA.

Clin Chem. 2018 Dec;64(12):1785-1787. doi: 10.1373/clinchem.2018.293696. No abstract available.

PMID:
30487191
6.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI.

Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8.

7.

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT.

Am J Med Genet A. 2018 Dec;176(12):2554-2560. doi: 10.1002/ajmg.a.60677. Epub 2018 Nov 26.

PMID:
30475435
8.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

Metz KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver E, Bi W, Markello TC, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Burrow TA, Jayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong MT, Mordekar SR, Parker MJ, Crooks D, Agrawal PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman AL, Hardwick JM.

Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8.

PMID:
30295347
9.

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A.

J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. Review.

PMID:
30057141
10.

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA.

Clin Chem. 2018 Aug;64(8):1260-1262. doi: 10.1373/clinchem.2018.291146. No abstract available.

PMID:
30054302
11.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN).

Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.

PMID:
30031689
12.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

13.

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB.

Mol Genet Metab. 2018 Jun;124(2):161-167. doi: 10.1016/j.ymgme.2018.04.002. Epub 2018 Apr 6.

PMID:
29685658
14.

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM.

Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10.

PMID:
29550355
15.

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Demirbas D, Brucker WJ, Berry GT.

Pediatr Clin North Am. 2018 Apr;65(2):337-352. doi: 10.1016/j.pcl.2017.11.008. Review.

PMID:
29502917
16.

Hereditary galactosemia.

Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT.

Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Review.

PMID:
29409891
17.

Acute Illness Protocol for Urea Cycle Disorders.

Rodan LH, Aldubayan SH, Berry GT, Levy HL.

Pediatr Emerg Care. 2018 Jun;34(6):e115-e119. doi: 10.1097/PEC.0000000000001298.

PMID:
29135898
18.

Acute Illness Protocol for Maple Syrup Urine Disease.

Rodan LH, Aldubayan SH, Berry GT, Levy HL.

Pediatr Emerg Care. 2018 Jan;34(1):64-67. doi: 10.1097/PEC.0000000000001299.

PMID:
29095391
19.

Impaired fertility and motor function in a zebrafish model for classic galactosemia.

Vanoevelen JM, van Erven B, Bierau J, Huang X, Berry GT, Vos R, Coelho AI, Rubio-Gozalbo ME.

J Inherit Metab Dis. 2018 Jan;41(1):117-127. doi: 10.1007/s10545-017-0071-1. Epub 2017 Sep 14.

20.

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT.

JIMD Rep. 2018;40:17-22. doi: 10.1007/8904_2017_55. Epub 2017 Sep 9.

21.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB.

JIMD Rep. 2018;39:45-54. doi: 10.1007/8904_2017_45. Epub 2017 Jul 20.

22.

High serum serotonin in sudden infant death syndrome.

Haynes RL, Frelinger AL 3rd, Giles EK, Goldstein RD, Tran H, Kozakewich HP, Haas EA, Gerrits AJ, Mena OJ, Trachtenberg FL, Paterson DS, Berry GT, Adeli K, Kinney HC, Michelson AD.

Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):7695-7700. doi: 10.1073/pnas.1617374114. Epub 2017 Jul 3.

23.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME.

Fertil Steril. 2017 Jul;108(1):168-174. doi: 10.1016/j.fertnstert.2017.05.013. Epub 2017 Jun 1. Review.

PMID:
28579413
24.

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY.

Mol Genet Metab. 2017 May;121(1):9-15. doi: 10.1016/j.ymgme.2017.03.003. Epub 2017 Mar 10.

PMID:
28408159
25.

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders.

Aldubayan SH, Rodan LH, Berry GT, Levy HL.

Pediatr Emerg Care. 2017 Apr;33(4):296-301. doi: 10.1097/PEC.0000000000001093.

PMID:
28353532
26.

Classic Galactosemia and Clinical Variant Galactosemia.

Berry GT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Feb 4 [updated 2017 Mar 9].

27.

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation.

Berry GT.

Mol Genet Metab Rep. 2017 Feb 21;12:1. doi: 10.1016/j.ymgmr.2017.01.015. eCollection 2017 Sep. No abstract available.

28.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

Vockley J, Burton B, Berry GT, Longo N, Phillips J, Sanchez-Valle A, Tanpaiboon P, Grunewald S, Murphy E, Humphrey R, Mayhew J, Bowden A, Zhang L, Cataldo J, Marsden DL, Kakkis E.

Mol Genet Metab. 2017 Apr;120(4):370-377. doi: 10.1016/j.ymgme.2017.02.005. Epub 2017 Feb 7.

29.

Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia.

Aldubayan SH, Rodan LH, Berry GT, Levy HL.

Pediatr Emerg Care. 2017 Feb;33(2):142-146. doi: 10.1097/PEC.0000000000001028.

PMID:
28141776
30.

IP3 accumulation and/or inositol depletion: two downstream lithium's effects that may mediate its behavioral and cellular changes.

Sade Y, Toker L, Kara NZ, Einat H, Rapoport S, Moechars D, Berry GT, Bersudsky Y, Agam G.

Transl Psychiatry. 2016 Dec 6;6(12):e968. doi: 10.1038/tp.2016.217.

31.

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.

Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.

32.

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet).

J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. Review.

33.

The galactosemia network (GalNet).

Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP; Steering Committee on behalf of all Galactosemia Network representatives.

J Inherit Metab Dis. 2017 Mar;40(2):169-170. doi: 10.1007/s10545-016-9989-y. Epub 2016 Nov 11. No abstract available.

PMID:
27837294
34.

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I.

J Child Neurol. 2017 Jan;32(1):127-131. doi: 10.1177/0883073816672998. Epub 2016 Oct 23.

PMID:
27770045
35.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J.

Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001008. doi: 10.1101/mcs.a001008.

36.

Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

Kinney HC, Poduri AH, Cryan JB, Haynes RL, Teot L, Sleeper LA, Holm IA, Berry GT, Prabhu SP, Warfield SK, Brownstein C, Abram HS, Kruer M, Kemp WL, Hargitai B, Gastrang J, Mena OJ, Haas EA, Dastjerdi R, Armstrong DD, Goldstein RD.

J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. Epub 2016 Sep 9.

37.

Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.

Anselm I, MacCuaig M, Prabhu SP, Berry GT.

JIMD Rep. 2017;31:113. doi: 10.1007/8904_2016_577. Epub 2016 Jun 21. No abstract available.

38.

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Richardson A, Berry GT, Garganta C, Abbott MA.

JIMD Rep. 2017;32:25-32. doi: 10.1007/8904_2016_547. Epub 2016 Jun 14.

39.

A 10-Month-Old With Intermittent Hypotonia and Paralysis.

Beinvogl BC, Rosman NP, Baumer FM, Rodan LH, Forster CS, Kwon AH, Berry GT.

Pediatrics. 2016 Jul;138(1). pii: e20151896. doi: 10.1542/peds.2015-1896. Epub 2016 Jun 1.

40.
41.

Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.

Anselm I, MacCuaig M, Prabhu SB, Berry GT.

JIMD Rep. 2017;31:107-111. doi: 10.1007/8904_2016_546. Epub 2016 Mar 10. Erratum in: JIMD Rep. 2017;31:113.

42.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

43.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.

Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT.

JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.

44.

Galactose metabolism and health.

Coelho AI, Berry GT, Rubio-Gozalbo ME.

Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):422-7. doi: 10.1097/MCO.0000000000000189. Review.

PMID:
26001656
45.

A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.

Tran TT, Liu Y, Zwick ME, Ramachandran D, Cutler DJ, Huang X, Berry GT, Fridovich-Keil JL.

JIMD Rep. 2015;19:1-6. doi: 10.1007/8904_2014_349. Epub 2015 Feb 15.

46.

Menkes disease in affected females: the clinical disease spectrum.

Smpokou P, Samanta M, Berry GT, Hecht L, Engle EC, Lichter-Konecki U.

Am J Med Genet A. 2015 Feb;167A(2):417-20. doi: 10.1002/ajmg.a.36853. Epub 2014 Nov 26. Review.

47.

The complexity of newborn screening follow-up in phenylketonuria.

Hecht LE, Wessel AE, Levy HL, Berry GT.

JIMD Rep. 2014;17:37-9. doi: 10.1007/8904_2014_329. Epub 2014 Aug 26.

48.

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Zsengellér ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, Venditti CP, Berry GT, Rosen S.

Pediatr Nephrol. 2014 Nov;29(11):2139-46. doi: 10.1007/s00467-014-2847-y. Epub 2014 May 28.

PMID:
24865477
49.

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT.

Mol Genet Metab. 2014 Jul;112(3):191-7. doi: 10.1016/j.ymgme.2014.04.004. Epub 2014 May 2. Review.

PMID:
24857409
50.

Copy number variation plays an important role in clinical epilepsy.

Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A.

Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.

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