Found: 26
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Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 7, p. 1726, doi. 10.1210/clinem/dgae040
- By:
- Publication type:
- Article
What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 5, p. e1410, doi. 10.1210/clinem/dgad726
- By:
- Publication type:
- Article
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2941, doi. 10.1002/ajmg.a.62910
- By:
- Publication type:
- Article
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A cross-sectional association between bone mineral density and parathyroid hormone and other biomarkers in community-dwelling young adults: the CARDIA study.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.
- Published in:
- Scientific Reports, 2016, p. 38305, doi. 10.1038/srep38305
- By:
- Publication type:
- Article
Prevalence of Vitamin D Deficiency in International Adoptees Within the First 6 Months After Adoption.
- Published in:
- Clinical Pediatrics, 2013, v. 52, n. 12, p. 1149, doi. 10.1177/0009922813495955
- By:
- Publication type:
- Article
Early characteristics of bone deficits in children with Fontan palliation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Vitamin D Insufficiency Is Common in Ugandan Children and Is Associated with Severe Malaria.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113185
- By:
- Publication type:
- Article
Feasibility and tolerability of whole-body, low-intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 189, doi. 10.3390/biom11020189
- By:
- Publication type:
- Article
Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02943-8
- By:
- Publication type:
- Article
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 89, doi. 10.1002/jmd2.12190
- By:
- Publication type:
- Article
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50595-1
- By:
- Publication type:
- Article
Child with a history of multiple fractures.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1182, doi. 10.1002/ana.26786
- By:
- Publication type:
- Article
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 695, doi. 10.1002/jimd.12598
- By:
- Publication type:
- Article
Critical hypercalcemia following discontinuation of denosumab therapy for metastatic giant cell tumor of bone.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 6, p. 1078, doi. 10.1002/pbc.25393
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- Publication type:
- Article
Growth hormone treatment of patients with Fanconi Anemia after hematopoietic cell transplantation.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 6, p. 1142, doi. 10.1002/pbc.24910
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- Publication type:
- Article
First phase insulin release and glucose tolerance in children with Fanconi anemia after hematopoietic cell transplantation.
- Published in:
- Pediatric Blood & Cancer, 2009, v. 53, n. 2, p. 191, doi. 10.1002/pbc.22043
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- Publication type:
- Article
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
- Published in:
- BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0311-x
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- Publication type:
- Article
Vitamin D Deficiency Is Associated with Pulmonary Exacerbations in Children with Cystic Fibrosis.
- Published in:
- Annals of the American Thoracic Society, 2014, v. 11, n. 2, p. 198, doi. 10.1513/AnnalsATS.201208-068OC
- By:
- Publication type:
- Article
Unusual Cortical Phenotype After Hematopoietic Stem Cell Transplantation in a Patient With Osteopetrosis.
- Published in:
- JBMR Plus, 2022, v. 6, n. 6, p. 1, doi. 10.1002/jbm4.10616
- By:
- Publication type:
- Article
Open‐Label Pilot Study of Interferon Gamma–1b in Patients With Non‐Infantile Osteopetrosis.
- Published in:
- JBMR Plus, 2022, v. 6, n. 3, p. 1, doi. 10.1002/jbm4.10597
- By:
- Publication type:
- Article
Association of Osteocalcin With Obesity, Insulin Resistance, and Cardiovascular Risk Factors in Young Adults.
- Published in:
- Obesity (19307381), 2012, v. 20, n. 11, p. 2194, doi. 10.1038/oby.2012.108
- By:
- Publication type:
- Article