Found: 49
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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
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
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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
The development of end stage renal disease in two patients with PMM2‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 131, doi. 10.1002/jmd2.12269
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- Article
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 62, n. 1, p. 30, doi. 10.1002/jmd2.12249
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- Article
[<sup>13</sup>C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 104, doi. 10.1002/jmd2.12205
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- Article
Is X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 2, p. 335, doi. 10.1111/epi.16817
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- Publication type:
- Article
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 203, doi. 10.1002/ajmg.a.61910
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- Article
A retrospective study of adult patients with noncirrhotic hyperammonemia.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1165, doi. 10.1002/jimd.12292
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- Article
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1205, doi. 10.1002/jimd.12279
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- Article
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 880, doi. 10.1002/jimd.12225
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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
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1426, doi. 10.1002/ajmg.a.61580
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- Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 392, doi. 10.1002/jimd.12202
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- Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
- Published in:
- 2019
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- Publication type:
- journal 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.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 63, doi. 10.1002/jmd2.12018
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- Publication type:
- Article
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).
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 169, doi. 10.1002/jimd.12038
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- Publication type:
- Article
Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2554, doi. 10.1002/ajmg.a.60677
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- Article
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2768, doi. 10.1002/ajmg.a.40628
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- Publication type:
- Article
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 12, p. 1785, doi. 10.1373/clinchem.2018.293696
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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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- Publication type:
- Article
Impaired fertility and motor function in a zebrafish model for classic galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 117, doi. 10.1007/s10545-017-0071-1
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- Publication type:
- Article
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
- Published in:
- Journal of Child Neurology, 2017, v. 32, n. 1, p. 127, doi. 10.1177/0883073816672998
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- Article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
- Published in:
- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Article
Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation.
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- 2015
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- Publication type:
- journal article
Menkes disease in affected females: The clinical disease spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 417, doi. 10.1002/ajmg.a.36853
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- Publication type:
- Article
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
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- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1229, doi. 10.1038/ejhg.2014.8
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- Article
Copy number variation plays an important role in clinical epilepsy.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 6, p. 943, doi. 10.1002/ana.24178
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- Publication type:
- Article
Liquid Chromatography--Tandem Mass Spectrometry Enzyme Assay for UDP-Galactose 4'-Epimerase: Use of Fragment Intensity Ratio in Differentiation of Structural Isomers.
- Published in:
- Clinical Chemistry, 2014, v. 60, n. 5, p. 783, doi. 10.1373/clinchem.2013.219931
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- Publication type:
- Article
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study.
- Published in:
- Kidney International, 2014, v. 85, n. 5, p. 1214, doi. 10.1038/ki.2013.497
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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
Inositol-Related Gene Knockouts Mimic Lithium's Effect on Mitochondrial Function.
- Published in:
- Neuropsychopharmacology, 2014, v. 39, n. 2, p. 319, doi. 10.1038/npp.2013.194
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- Article
Fertility preservation in female classic galactosemia patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-107
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- Article
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 5, p. e81, doi. 10.1111/epi.12137
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- Publication type:
- Article
Fertility preservation in female classic galactosemia patients.
- Published in:
- 2013
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- Publication type:
- journal article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
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- Article
Glycogen synthase kinase-3 is essential for β-arrestin-2 complex formation and lithium-sensitive behaviors in mice.
- Published in:
- 2011
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- Publication type:
- journal article
A 9-Month-Old Boy with Seizures and Discrepant Urine Tryptophan Concentrations.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 4, p. 545, doi. 10.1373/clinchem.2010.144899
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- Publication type:
- Article
Quantification of Galactose-1-Phosphate Uridyltransferase Enzyme Activity by Liquid Chromatography-Tandem Mass Spectrometry.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 5, p. 772, doi. 10.1373/clinchem.2009.140459
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- Publication type:
- Article
Galactosemia and Amenorrhea in the Adolescent.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1135, p. 112, doi. 10.1196/annals.1429.038
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- Publication type:
- Article
Homozygote inositol transporter knockout mice show a lithium-like phenotype.
- Published in:
- Bipolar Disorders, 2008, v. 10, n. 4, p. 453, doi. 10.1111/j.1399-5618.2007.00546.x
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- Article
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
- Published in:
- Neuroradiology, 2003, v. 45, n. 6, p. 393, doi. 10.1007/s00234-003-0955-7
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- Publication type:
- Article
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 21, doi. 10.1007/s00439-001-0638-6
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- Publication type:
- Article
Proton magnetic resonance spectroscopy of brain metabolites in galactosemia.
- Published in:
- 2001
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- Publication type:
- journal article
Molecular and Biochemical Analysis of Protective Protein/Cathepsin A Mutations: Correlation with Clinical Severity in Galactosialidosis.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1977, doi. 10.1093/hmg/5.12.1977
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- Publication type:
- Article
GI Complications After Orthotopic Lung Transplantation.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1996, v. 91, n. 11, p. 2382
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- Publication type:
- Article