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Items: 1 to 20 of 62

1.

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 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22.

PMID:
30718057
2.

Revising the Psychiatric Phenotype of Homocystinuria.

Almuqbil MA, Waisbren SE, Levy HL, Picker JD.

Genet Med. 2019 Jan 15. doi: 10.1038/s41436-018-0419-4. [Epub ahead of print]

PMID:
30643218
3.

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.

Glinton KE, Levy HL, Kennedy AD, Pappan KL, Elsea SH.

Mol Genet Metab Rep. 2018 Dec 29;18:14-18. doi: 10.1016/j.ymgmr.2018.12.005. eCollection 2019 Mar.

4.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team.

Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.

PMID:
30609409
5.

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH; BabySeq Project Team.

Pediatrics. 2019 Jan;143(Suppl 1):S37-S43. doi: 10.1542/peds.2018-1099H.

6.

Challenging the Current Recommendations for Carrier Testing in Children.

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S27-S32. doi: 10.1542/peds.2018-1099F.

7.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group.

Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C.

8.

Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB; BabySeq Project Team.

Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13.

9.

The BabySeq project: implementing genomic sequencing in newborns.

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team, Green RC, Beggs AH.

BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.

10.

Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria.

Levy HL, Sarkissian CN, Scriver CR.

Mol Genet Metab. 2018 Aug;124(4):223-229. doi: 10.1016/j.ymgme.2018.06.002. Epub 2018 Jun 9. Review.

PMID:
29941359
11.

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL; BabySeq Project Team.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug.

12.

Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria.

Stroup BM, Nair N, Murali SG, Broniowska K, Rohr F, Levy HL, Ney DM.

J Nutr. 2018 Feb 1;148(2):194-201. doi: 10.1093/jn/nxx039.

13.

Metabolomic Insights into the Nutritional Status of Adults and Adolescents with Phenylketonuria Consuming a Low-Phenylalanine Diet in Combination with Amino Acid and Glycomacropeptide Medical Foods.

Stroup BM, Ney DM, Murali SG, Rohr F, Gleason ST, van Calcar SC, Levy HL.

J Nutr Metab. 2017;2017:6859820. doi: 10.1155/2017/6859820. Epub 2017 Dec 31.

14.

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
15.

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
16.

Dietary amino acid intakes associated with a low-phenylalanine diet combined with amino acid medical foods and glycomacropeptide medical foods and neuropsychological outcomes in subjects with phenylketonuria.

Stroup BM, Murali SG, Nair N, Sawin EA, Rohr F, Levy HL, Ney DM.

Data Brief. 2017 Jun 7;13:377-384. doi: 10.1016/j.dib.2017.06.004. eCollection 2017 Aug.

17.

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

Sacharow SJ, Picker JD, Levy HL.

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.
2004 Jan 15 [updated 2017 May 18].

18.

Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Ney DM, Murali SG, Stroup BM, Nair N, Sawin EA, Rohr F, Levy HL.

Mol Genet Metab. 2017 Jun;121(2):96-103. doi: 10.1016/j.ymgme.2017.04.003. Epub 2017 Apr 6.

19.

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
20.

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

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