Found: 18
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Atlantoaxial instability associated with ALDH18A1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 12, p. 2898, doi. 10.1002/ajmg.a.63388
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- Article
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. e1306, doi. 10.1210/clinem/dgad286
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- Publication type:
- Article
A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 5, p. 1, doi. 10.1210/jcemcr/luad109
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- Article
Is More Effective Newborn Screening for Homocystinuria on the Horizon?
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 5, p. 433, doi. 10.1093/clinchem/hvad027
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- Article
Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2760, doi. 10.1002/ajmg.a.62886
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- Article
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
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- Article
A retrospective study of adult patients with noncirrhotic hyperammonemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1165, doi. 10.1002/jimd.12292
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- Article
The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 3, doi. 10.1002/jmd2.12119
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- Publication type:
- Article
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1276, doi. 10.1002/ajmg.a.61173
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- Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- 2019
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- Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
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- Publication type:
- Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
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- Publication type:
- Article
Hyperammonemic Encephalopathy Associated With Fibrolamellar Hepatocellular Carcinoma: Case Report, Literature Review, and Proposed Treatment Algorithm.
- Published in:
- Oncologist, 2016, v. 21, n. 4, p. 514, doi. 10.1634/theoncologist.2015-0267
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- Publication type:
- Article
Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2762, doi. 10.1002/ajmg.a.36265
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- Article
The increased incidence of congenital hypothyroidism: fact or fancy?
- Published in:
- Clinical Endocrinology, 2011, v. 75, n. 6, p. 806, doi. 10.1111/j.1365-2265.2011.04128.x
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- Publication type:
- Article
Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India.
- Published in:
- Indian Journal of Pediatrics, 2011, v. 78, n. 8, p. 953, doi. 10.1007/s12098-011-0398-9
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- Publication type:
- Article
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 273, doi. 10.1007/s10545-010-9103-9
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- Publication type:
- Article
Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 10, p. 826, doi. 10.1177/08830738050200100901
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- Article