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1.

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

Bier, Caide; Dickey, Kaelin; Bibb, Brittan; Crutcher, Angela; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Davis-Keppen, Laura; Matthes, Cindy; Tharp, Michelle; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Lah, Melissa; McNutt, Markey; Andersson, Hans C.

Mol Genet Metab; 141(3): 108152, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38367583

2.

The 2019 US medical genetics workforce: a focus on clinical genetics.

Jenkins, Brittany D; Fischer, Catherine G; Polito, Curt A; Maiese, Deborah R; Keehn, Alisha S; Lyon, Megan; Edick, Mathew J; Taylor, Matthew R G; Andersson, Hans C; Bodurtha, Joann N; Blitzer, Miriam G; Muenke, Maximilian; Watson, Michael S.

Genet Med; 23(8): 1458-1464, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-33941882

3.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Mistry, Pramod K; Batista, Julie L; Andersson, Hans C; Balwani, Manisha; Burrow, Thomas Andrew; Charrow, Joel; Kaplan, Paige; Khan, Aneal; Kishnani, Priya S; Kolodny, Edwin H; Rosenbloom, Barry; Scott, C Ronald; Weinreb, Neal.

Am J Hematol; 92(9): 929-939, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-28569047

4.

Algorithm-driven electronic health record notification enhances detection of Turner syndrome.

Andersson, Hans C.

J Pediatr; 216: 1-3, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31843104

5.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Vockley, Jerry; Andersson, Hans C; Antshel, Kevin M; Braverman, Nancy E; Burton, Barbara K; Frazier, Dianne M; Mitchell, John; Smith, Wendy E; Thompson, Barry H; Berry, Susan A.

Genet Med; 16(2): 188-200, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24385074

6.

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.

Upadia, Jariya; Crivelly, Kea; Noh, Grace; Cunningham, Amy; Cerminaro, Caroline; Li, Yuwen; Mckoin, Meredith; Chenevert, Madeline; Andersson, Hans C.

Mol Genet Metab Rep; 38: 101050, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38469087

7.

Newborn screening: a national snapshot with implications for emergency preparedness.

Floyd-Browning, Phaidra; Perry, William; Andersson, Hans C.

J Pediatr; 162(5): 955-7.e1-2, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23245195

8.

Stippled Chondral Calcifications of the Patella in Zellweger Syndrome.

Rife, Eileen; Dunbar, Alston E; Nelson, Stephen L; Andersson, Hans C.

J Pediatr; 192: 265, 2018 01.

Artículo en Inglés | MEDLINE | ID: mdl-29246349

9.

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.

Upadia, Jariya; Noh, Grace; Lefante, John J; Andersson, Hans C.

Mol Genet Metab Rep; 37: 101002, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37671074

10.

Dietary guidelines for inborn errors of metabolism.

Andersson, Hans C.

J Pediatr; 188: 1-2, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-28843300

11.

Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies.

Andersson, Hans C.

J Pediatr; 190: 9-10, 2017 11.

Artículo en Inglés | MEDLINE | ID: mdl-29144277

12.

Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.

Upadia, Jariya; Li, Yuwen; Walano, Nicolette; Deputy, Stephen; Gajewski, Kelly; Andersson, Hans C.

Clin Case Rep; 10(2): e05401, 2022 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-35228874

13.

Emergency preparedness for genetics centers, laboratories, and patients: the Southeast Region Genetics Collaborative strategic plan.

Andersson, Hans C; Perry, William; Bowdish, Bruce; Floyd-Browning, Phaidra.

Genet Med; 13(10): 903-7, 2011 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-21673582

14.

A severity score in PGM-1 deficiency.

Andersson, Hans C.

J Pediatr; 175: 1-4, 2016 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-27507310

15.

HSD10 disease in a female: A case report and review of literature.

Upadia, Jariya; Walano, Nicolette; Noh, Grace S; Liu, Jiao; Li, Yuwen; Deputy, Stephen; Elliott, Lindsay T; Wong, Joaquin; Lee, Jennifer A; Caylor, Raymond C; Andersson, Hans C.

JIMD Rep; 62(1): 35-43, 2021 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-34765396

16.

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.

Adams, Darius; Andersson, Hans C; Bausell, Heather; Crivelly, Kea; Eggerding, Caroline; Lah, Melissa; Lilienstein, Joshua; Lindstrom, Kristin; McNutt, Markey; Ray, Joseph W; Saavedra, Heather; Sacharow, Stephanie; Starin, Danielle; Tiffany-Amaro, Jennifer; Thomas, Janet; Vucko, Erika; Wessenberg, Leah B; Whitehall, Kaleigh.

Mol Genet Metab Rep; 28: 100790, 2021 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-34430209

17.

50 Years Ago in The Journal of Pediatrics: Hurler's Disease, Morquio's Disease and Related Mucopolysaccharidoses.

Andersson, Hans C.

J Pediatr; 167(2): 337, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-26210841

18.

Newborn screening + enzyme replacement therapy = improved lysosomal storage disorder: outcomes in infantile-onset Pompe disease.

Andersson, Hans C.

J Pediatr; 166(4): 800-1, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25641241

19.

50 years ago in The Journal of Pediatrics: Tyrosinemia--an inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal defects.

Andersson, Hans C.

J Pediatr; 166(4): 896, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25819913

20.

50 Years ago in The Journal of Pediatrics: Children of mothers with phenylketonuria.

Andersson, Hans C.

J Pediatr; 163(3): 671, 2013 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-23973234

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Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

The 2019 US medical genetics workforce: a focus on clinical genetics.

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Algorithm-driven electronic health record notification enhances detection of Turner syndrome.

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect.

Newborn screening: a national snapshot with implications for emergency preparedness.

Stippled Chondral Calcifications of the Patella in Zellweger Syndrome.

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.

Dietary guidelines for inborn errors of metabolism.

Newborn Screening for Spinal Muscular Atrophy and Lysosomal Storage Disorders Takes Advantage of Novel Therapies.

Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.

Emergency preparedness for genetics centers, laboratories, and patients: the Southeast Region Genetics Collaborative strategic plan.

A severity score in PGM-1 deficiency.

HSD10 disease in a female: A case report and review of literature.

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics.

50 Years Ago in The Journal of Pediatrics: Hurler's Disease, Morquio's Disease and Related Mucopolysaccharidoses.

Newborn screening + enzyme replacement therapy = improved lysosomal storage disorder: outcomes in infantile-onset Pompe disease.

50 years ago in The Journal of Pediatrics: Tyrosinemia--an inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal defects.

50 Years ago in The Journal of Pediatrics: Children of mothers with phenylketonuria.