Primary Immune Deficiency Diseases
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Records 1 - 30 (of 205 Records) |
| Query Trace: all[original query]>>Reviews/Commentaries[Product Type] |
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| The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency. Marta Santiago et al. Cancers 2023 15(5) |
| Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing. Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16 |
| MEFV gene mutation spectrum in patients with familial mediterranean fever. Hsin-Hui Wang et al. Pediatrics and neonatology 2023 |
| Expert review and consensus on the t2t management of hereditary angioedema: from the scientific evidence to clinical practice. T Caballero et al. Journal of investigational allergology & clinical immunology 2023 0 |
| Gene Therapy for Artemis-Deficient SCID SY Pai, NEJM, December 22, 2022 |
| New use for an old drug: quinidine in KCNT1-related epilepsy therapy. Liu Ru et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 |
| Hereditary Angioedema During Pregnancy: Considerations in Management. Riedl Marc A et al. Immunology and allergy clinics of North America 2022 43(1) 145-157 |
| Treating hereditary transthyretin amyloidosis: Present & future challenges. Echaniz-Laguna A et al. Revue neurologique 2022 |
| TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency. Ramos Barbara Cristina et al. Journal of clinical immunology 2022 |
| Take a Leap of Faith: Implement Routine Genetic Testing in your Office. Convers Kathryn D et al. The journal of allergy and clinical immunology. In practice 2022 |
| Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations. Carneiro-Sampaio Magda et al. Frontiers in pediatrics 2022 10891343 |
| The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. Askarian Saeedeh et al. Oral and maxillofacial surgery 2022 |
| Future Perspectives of Newborn Screening for Inborn Errors of Immunity. Blom Maartje et al. International journal of neonatal screening 2021 7(4) |
| Establishing Newborn Screening for SCID in the USA; Experience in California. Puck Jennifer M et al. International journal of neonatal screening 2021 7(4) |
| Impact of the J Project on progress of primary immunodeficiency care in Ukraine. Volokha Alla et al. Central-European journal of immunology 2021 46(2) 250-257 |
| Genetic screening techniques and diseases for neonatal genetic diseases. Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435 |
| Social determinants of health and primary immunodeficiency. Schejter Dr Yael Dinur et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021 |
| Evaluation of newborn screening for severe combined immunodeficiency (SCID). Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457 |
| [Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases]. Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333 |
| Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases. Sabir Ataf et al. British medical bulletin 2021 |
| Candidate Genes Encoding Dopamine Receptors as Predictors of the Risk of Antipsychotic-Induced Parkinsonism and Tardive Dyskinesia in Schizophrenic Patients. Vaiman Elena E et al. Biomedicines 2021 9(8) |
| Newborn Screening in the Diagnosis of Primary Immunodeficiency. Kobrynski Lisa J et al. Clinical reviews in allergy & immunology 2021 |
| Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases. Aleksandra Szczawinska-Poplonyk et al. Allergologia et immunopathologia 2021 49(4) 117-136 |
| DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease. Wang Heling et al. International journal of molecular sciences 2021 22(13) |
| Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life. Mallhi Kanwaldeep K et al. Journal of blood medicine 2021 12435-447 |
| Gene therapy helps children with immunodeficiency O'Leary, Nature Medicine, June 10, 2021 |
| Mitigating Disparity in Health-care Resources Between Countries for Management of Hereditary Angioedema. Jindal Ankur Kumar et al. Clinical reviews in allergy & immunology 2021 |
| Non-adherence to colchicine treatment is a common misevaluation in familial Mediterranean fever. Tekgöz Emre et al. Turkish journal of medical sciences 2021 |
| Milestone stem cell transplant helps child beat rare disease D Sashin, Stanford Scope, April 28, 2021 |
| Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report. Bork Konrad et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2021 17(1) 40 |