Found: 17
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1355962
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- Article
Numerical Modeling of Mechanical Behavior of Functionally Graded Polylactic Acid–Acrylonitrile Benzidine Styrene Produced via Fused Deposition Modeling: Experimental Observations.
- Published in:
- Materials (1996-1944), 2023, v. 16, n. 14, p. 5177, doi. 10.3390/ma16145177
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- Article
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
- Published in:
- Human Reproduction Update, 2023, v. 29, n. 2, p. 246, doi. 10.1093/humupd/dmac041
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- Article
A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1106, doi. 10.1002/jimd.12556
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- Article
Galactose epimerase deficiency: lessons from the GalNet registry.
- Published in:
- 2022
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- Publication type:
- journal article
Stress Analysis of 2D-FG Rectangular Plates with Multi-Gene Genetic Programming.
- Published in:
- Applied Sciences (2076-3417), 2022, v. 12, n. 16, p. N.PAG, doi. 10.3390/app12168198
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- Article
Negatif Poisson Oranına Sahip Sandviç Kompozitlerin Statik Davranışının Belirlenmesi.
- Published in:
- International Journal of Engineering Research & Development (IJERAD), 2022, v. 14, n. 1, p. 347, doi. 10.29137/umagd.1032060
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- Article
Evaluation of Stress Distribution of Isotropic, Composite, and FG Beams with Different Geometries in Nonlinear Regime via Carrera-Unified Formulation and Lagrange Polynomial Expansions.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 22, p. 10627, doi. 10.3390/app112210627
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- Article
[<sup>13</sup>C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 104, doi. 10.1002/jmd2.12205
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- Article
The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 3, doi. 10.1002/jmd2.12119
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- Article
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 26, doi. 10.1002/jmd2.12054
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- Article
Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018
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- Article
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
- Published in:
- 2018
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- Publication type:
- journal article
Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 8, p. 1260, doi. 10.1373/clinchem.2018.291146
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- Article
Fonksiyonel Olarak Kademelendirilmiş Modüllü Yapıştırıcı Bağlantıların Isıl Gerilme Analizi.
- Published in:
- Journal of Polytechnic, 2018, v. 21, n. 2, p. 445, doi. 10.2339/politeknik.389620
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- Article
KCNQ1, KCNE2, and Na<sup>+</sup>-Coupled Solute Transporters Form Reciprocally Regulating Complexes That Affect Neuronal Excitability.
- Published in:
- Science Signaling, 2014, v. 7, n. 315, p. 1, doi. 10.1126/scisignal.2005025
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- Article
A Yeast-Based Chemical Screen Identifies a PDE Inhibitor That Elevates Steroidogenesis in Mouse Leydig Cells via PDE8 and PDE4 Inhibition.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071279
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- Article