Found: 186
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Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women.
- Published in:
- Clinical Pharmacology in Drug Development, 2024, v. 13, n. 8, p. 876, doi. 10.1002/cpdd.1433
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- Article
Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
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- Vascular Medicine, 2024, v. 29, n. 3, p. 245, doi. 10.1177/1358863X241235669
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- Article
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
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- Movement Disorders, 2024, v. 39, n. 1, p. 164, doi. 10.1002/mds.29654
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- Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02966-1
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- Article
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1166076
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- Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1072784
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- Article
Correction: LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
- Published in:
- 2023
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- Correction Notice
LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 2, p. 1, doi. 10.1007/s00018-023-04695-x
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- Article
A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 624, doi. 10.1002/ajmg.a.63045
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- Article
Determination of FGF23 Levels for the Diagnosis of FGF23‐Mediated Hypophosphatemia.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2174, doi. 10.1002/jbmr.4702
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- Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 907, doi. 10.1002/jimd.12506
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- Article
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Growth in Joubert syndrome: Growth curves and physical measurements with correlation to genotype and hepatorenal disease in 170 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 847, doi. 10.1002/ajmg.a.62593
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- Article
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 121, doi. 10.1002/ajmg.c.31966
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- Article
Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 11, p. 2193, doi. 10.1002/jbmr.4418
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- Article
FOXR1 regulates stress response pathways and is necessary for proper brain development.
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- PLoS Genetics, 2021, v. 17, n. 11, p. 1, doi. 10.1371/journal.pgen.1009854
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- Article
Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease.
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- Cancers, 2021, v. 13, n. 16, p. 4126, doi. 10.3390/cancers13164126
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- Article
Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group.
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- 2021
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- Publication type:
- journal article
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2102, doi. 10.1002/ajmg.a.62245
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- Article
CB<sub>1</sub>R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome.
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- Clinical & Translational Medicine, 2021, v. 11, n. 7, p. 1, doi. 10.1002/ctm2.471
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- Article
Diagnosis of Chediak Higashi disease in a 67‐year old woman.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3007, doi. 10.1002/ajmg.a.61886
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- Publication type:
- Article
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
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- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3516, doi. 10.1093/hmg/ddaa237
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- Article
Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease.
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- JAMA Network Open, 2020, v. 3, n. 10, p. e2019169, doi. 10.1001/jamanetworkopen.2020.19169
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- Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1037, doi. 10.1002/jimd.12249
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- Article
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.
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- PLoS Genetics, 2020, v. 16, n. 6, p. 1, doi. 10.1371/journal.pgen.1008841
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- Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1278, doi. 10.1002/ajmg.a.61542
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- Article
Neurological manifestations of Erdheim–Chester Disease.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 497, doi. 10.1002/acn3.51014
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- Article
Hermansky–Pudlak syndrome: Mutation update.
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- Human Mutation, 2020, v. 41, n. 3, p. 543, doi. 10.1002/humu.23968
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- Article
Bleomycin Induces Drug Efflux in Lungs: A Pitfall for Pharmacological Studies of Pulmonary Fibrosis.
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- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 2, p. 178, doi. 10.1165/rcmb.2018-0147OC
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- Article
Quantitation of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC–MS/MS: method development and validation.
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- Biomedical Chromatography, 2020, v. 34, n. 2, p. N.PAG, doi. 10.1002/bmc.4735
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- Article
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
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- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012
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- Article
Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features.
- Published in:
- 2019
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- Publication type:
- journal article
Data-driven method to enhance craniofacial and oral phenotype vocabularies.
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- Journal of the American Dental Association (JADA), 2019, v. 150, n. 11, p. 933, doi. 10.1016/j.adaj.2019.05.029
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- Publication type:
- Article
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2091, doi. 10.1002/ajmg.a.61329
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- Article
Management of bone disease in cystinosis: Statement from an international conference.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 1019, doi. 10.1002/jimd.12134
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- Publication type:
- Article
SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
- Published in:
- Human Mutation, 2019, v. 40, n. 7, p. 908, doi. 10.1002/humu.23731
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- Publication type:
- Article
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
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- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008143
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- Article
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
- Published in:
- 2019
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- Publication type:
- journal article
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 154, doi. 10.1002/acn3.661
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- Publication type:
- Article
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 42, doi. 10.1002/humu.23675
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- Publication type:
- Article
DDX58 and Classic Singleton-Merten Syndrome.
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- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 75, doi. 10.1007/s10875-018-0572-1
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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
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2819, doi. 10.1002/ajmg.a.40514
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- Publication type:
- Article
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2930, doi. 10.1002/ajmg.a.40658
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- Publication type:
- Article
Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAF<sup>V600E</sup> mutation.
- Published in:
- 2018
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- Publication type:
- journal article
Skeletal Consequences of Nephropathic Cystinosis.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 10, p. 1870, doi. 10.1002/jbmr.3522
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- Publication type:
- Article
Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAF<sup>V600E</sup> mutation.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim–Chester Disease.
- Published in:
- Journal of Clinical Medicine, 2018, v. 7, n. 9, p. 243, doi. 10.3390/jcm7090243
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- Publication type:
- Article
Quantification of lectin fluorescence in GNE myopathy muscle biopsies.
- Published in:
- 2018
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- Publication type:
- journal article