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Clinical characteristics of children with Borrelia‐related peripheral facial palsy and utility of cerebrospinal fluid testing.
- Published in:
- Acta Paediatrica, 2024, v. 113, n. 7, p. 1630, doi. 10.1111/apa.17241
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- Article
Cost Effectiveness of Adding Fenfluramine to Standard of Care for Patients with Dravet Syndrome in Sweden.
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- Applied Health Economics & Health Policy, 2024, v. 22, n. 4, p. 543, doi. 10.1007/s40258-024-00886-0
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- Publication type:
- Article
Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16283
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- Publication type:
- Article
Ophthalmic manifestations in children with tuberous sclerosis complex.
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- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 4, p. 421, doi. 10.1111/aos.15812
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- Article
Claiming the City: A Global History of Workers' Fight for Municipal Socialism.
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- Australian Journal of Politics & History, 2024, v. 70, n. 1, p. 156, doi. 10.1111/ajph.12964
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- Publication type:
- Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03075-3
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- Publication type:
- Article
Overuse of EEG and ECG in children with breath‐holding spells and its implication for the management of the spells.
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- Acta Paediatrica, 2024, v. 113, n. 2, p. 317, doi. 10.1111/apa.17020
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- Publication type:
- Article
Physician's conceptions of the decision-making process when managing febrile infants ≤ 60 days old: a phenomenographic qualitative study.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04548-x
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- Article
The Mirror and the Icon: A Theological Perspective on Nabokov's Pale Fire.
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- Partial Answers, 2024, v. 22, n. 1, p. 117, doi. 10.1353/pan.2024.a916702
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- Publication type:
- Article
Haloed Hallucinations: Vladimir Nabokov's Bend Sinister and the Cult of St. Antony from Athanasius to Gustave Flaubert.
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- Religion & the Arts, 2023, v. 27, n. 4, p. 454, doi. 10.1163/15685292-02704001
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- Publication type:
- Article
Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.
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- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04137-4
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- Publication type:
- Article
The Swedish COG6‐CDG experience and a comprehensive literature review.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 79, doi. 10.1002/jmd2.12338
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- Publication type:
- Article
Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency.
- Published in:
- Acta Paediatrica, 2022, v. 111, n. 12, p. 2315, doi. 10.1111/apa.16530
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- Publication type:
- Article
A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age.
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- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 66, doi. 10.3390/ijns8040066
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- Publication type:
- Article
Paediatric emergency departments should manage young febrile and afebrile infants the same if they have a fever before presenting.
- Published in:
- 2022
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- Publication type:
- journal article
'The Name of God Has Priority': 'God' and The Apophatic Element in Vladimir Nabokov's Pale Fire.
- Published in:
- Literature & Theology, 2022, v. 36, n. 3, p. 298, doi. 10.1093/litthe/frac019
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- Publication type:
- Article
Creation and Beauty in Tolkien's Catholic Vision: A Study in the Influence of Neoplatonism in J.R.R. Tolkien's Philosophy of Life as "Being and Gift." , by Halsall, Michael John.
- Published in:
- 2022
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- Publication type:
- Book Review
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 248, doi. 10.1002/jimd.12463
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- Publication type:
- Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
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- 2022
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- Publication type:
- journal article
Age- and sex-specific prevalence of serious bacterial infections in febrile infants ≤60 days, in Sweden.
- Published in:
- 2021
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- Publication type:
- journal article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
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- Publication type:
- Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
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- Publication type:
- Article
Mandarins & mavericks: remembering Western Mining 1933-2005.
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- Journal of Australasian Mining History, 2019, v. 17, p. 181
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- Publication type:
- Article
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 898, doi. 10.1002/jimd.12149
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- Publication type:
- Article
A Post-Carbon Future? Narratives of Change and Identity in the Latrobe Valley, Australia.
- Published in:
- BIOS: Zeitschrift für Biographieforschung, Oral History und Lebensverlaufsanalysen, 2018, v. 31, n. 2, p. 67, doi. 10.3224/bios.v31i2.06
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- Publication type:
- Article
Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.
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- 2018
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- Publication type:
- journal article
The Second Rush: Mining and the Transformation of Australia.
- Published in:
- 2017
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- Publication type:
- Book Review
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
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- 2017
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- Publication type:
- journal article
'Developing a community soul': A Comparative Assessment of the Australian Assistance Plan in Three Regions, 1973-1977.
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- Australian Journal of Politics & History, 2016, v. 62, n. 3, p. 419, doi. 10.1111/ajph.12271
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- Publication type:
- Article
REPORT BACK.
- Published in:
- 2016
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- Publication type:
- Proceeding
Trauma Survival Margin Analysis: A Dissection of Trauma Center Performance through Initial Lactate.
- Published in:
- 2016
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- Publication type:
- journal article
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
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- Human Mutation, 2016, v. 37, n. 7, p. 653, doi. 10.1002/humu.22983
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- Publication type:
- Article
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate.
- Published in:
- 2016
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- Publication type:
- journal article
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc is a biomarker of ALG1-CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 107, doi. 10.1007/s10545-015-9884-y
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- Publication type:
- Article
Company Towns: Labor, Space, and Power Relations across Time and Continents.
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- 2014
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- Publication type:
- Book Review
Multidisciplinary Approach to University-Community Engagement.
- Published in:
- 2014
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- Publication type:
- Case Study
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-134
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- Publication type:
- Article
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
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- 2013
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- Publication type:
- journal article
The Big Fella: The Rise and Rise of BHP Billiton.
- Published in:
- 2012
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- Publication type:
- Book Review
A novel treatment approach for paediatric Gorham-Stout syndrome with chylothorax.
- Published in:
- Acta Paediatrica, 2011, v. 100, n. 11, p. 1448, doi. 10.1111/j.1651-2227.2011.02361.x
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- Publication type:
- Article
Representing Militancy: Photographs of the Broken Hill Industrial Disputes, 1908-20.
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- Labour History, 2011, n. 101, p. 1, doi. 10.5263/labourhistory.101.0001
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- Publication type:
- Article
The Tolpuddle Martyrs: Injustice within the Law.
- Published in:
- 2010
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- Publication type:
- Book Review
Estates, Enterprise and Investment at the Dawn of the Industrial Revolution: Estate Management and Accounting in the North-East of England, c.1700-1780.
- Published in:
- 2008
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- Publication type:
- Book Review
The importance of fibroblasts in remodelling of the human uterine cervix during pregnancy and parturition.
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- Molecular Human Reproduction, 2007, v. 13, n. 5, p. 333, doi. 10.1093/molehr/gal117
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- Publication type:
- Article
COG8 deficiency causes new congenital disorder of glycosylation type IIh.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 7, p. 731, doi. 10.1093/hmg/ddm028
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- Publication type:
- Article
Regulation of the chondroitin/dermatan fine structure by transforming growth factor-β1 through effects on polymer-modifying enzymes.
- Published in:
- Glycobiology, 2005, v. 15, n. 12, p. 1277, doi. 10.1093/glycob/cwj027
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- Publication type:
- Article
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
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- Glycobiology, 2005, v. 15, n. 11, p. 1084, doi. 10.1093/glycob/cwj006
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- Publication type:
- Article
Congenital Disorder of Glycosylation Id Presenting with Hyperinsulinemic Hypoglycemia and Islet Cell Hyperplasia.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4371, doi. 10.1210/jc.2005-0250
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- Publication type:
- Article
AN E-INTERVIEW WITH RAE FRANCES AND BRUCE SCATES.
- Published in:
- Labour History, 2003, n. 84, p. 113
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- Publication type:
- Article
THE "PLACE" OF POLITICS: CLASS AND LOCALIST POLITICS AT PORT KEMBLA, 1900-30.
- Published in:
- Labour History, 2000, n. 78, p. 94, doi. 10.2307/27516700
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- Publication type:
- Article