Pages that link to "Q33487201"
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The following pages link to Shwachman's syndrome. A review of 21 cases (Q33487201):
Displaying 50 items.
- Shwachman-Diamond syndrome is associated with low-turnover osteoporosis (Q24296683) (← links)
- The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes (Q24306310) (← links)
- Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. (Q24536337) (← links)
- Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality (Q28590641) (← links)
- Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar (Q33329383) (← links)
- Congenital defects of the marrow stem cell (Q33426646) (← links)
- Central pontine myelinolysis in a child with the Shwachman-Diamond syndrome (Q33459650) (← links)
- Severe Shwachman-Diamond syndrome and invasive parvovirus B19 infection (Q33497815) (← links)
- Pancreatic diseases (excluding cystic fibrosis). (Q33541794) (← links)
- Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders (Q33609691) (← links)
- Mesangioproliferative glomerulonephritis associated with retinitis pigmentosa (Q33646201) (← links)
- Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2). (Q33682811) (← links)
- Pancreatic aspects of cystic fibrosis and other inherited causes of pancreatic dysfunction (Q33953467) (← links)
- Management of Kostmann syndrome in the G-CSF era. (Q33962053) (← links)
- A practical approach to evaluating and treating neutropenia in the neonatal intensive care unit (Q34032594) (← links)
- Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance (Q34145612) (← links)
- Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). (Q34254882) (← links)
- Small intestinal absorption of amino acids and a dipeptide in pancreatic insufficiency (Q34496203) (← links)
- Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome (Q34526357) (← links)
- A practical approach to neutrophil disorders. (Q34995959) (← links)
- Pearson's syndrome without marrow involvement (Q35256149) (← links)
- Psychological characteristics of children with Shwachman syndrome (Q35626697) (← links)
- In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency (Q35658181) (← links)
- Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential (Q36007604) (← links)
- Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes (Q36115659) (← links)
- Shwachman-Diamond syndrome: UK perspective (Q36153055) (← links)
- SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention. (Q36240441) (← links)
- The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data (Q36372936) (← links)
- A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child (Q36854367) (← links)
- Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey (Q37009705) (← links)
- Pancreatic duct ligation after almost complete β-cell loss: exocrine regeneration but no evidence of β-cell regeneration (Q37331079) (← links)
- Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia (Q37356551) (← links)
- Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment (Q37425409) (← links)
- Neutropenia and primary immunodeficiency diseases (Q37610443) (← links)
- Primary immunodeficiency diseases associated with neurologic manifestations (Q37950942) (← links)
- Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome (Q37970727) (← links)
- Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome (Q38073045) (← links)
- Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update (Q38076884) (← links)
- Carbohydrate digestion: development in early infancy. (Q38160854) (← links)
- Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia (Q38498445) (← links)
- Probing the mechanisms underlying human diseases in making ribosomes (Q38928588) (← links)
- Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood (Q39101577) (← links)
- Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation (Q39104076) (← links)
- Two Siblings with Exocrine Pancreatic Hypoplasia and Orofacial Malformations (Donlan Syndrome and Johanson-Blizzard Syndrome) (Q39115214) (← links)
- Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome (Q39486271) (← links)
- Congenital failure of hematopoiesis in the newborn infant. (Q40182272) (← links)
- Stunted growth with more or less normal appearance (Q40254289) (← links)
- Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome (Q40388163) (← links)
- Congenital cyclic neutropenia (Q40401383) (← links)
- Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects (Q40417187) (← links)