Shwachman's syndrome. A review of 21 cases. - Wikidata - awgldk - TriplyDB

Shwachman's syndrome. A review of 21 cases.

Shwachman's syndrome. A review of 21 cases.

http://www.wikidata.org/entity/Q33487201

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Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality Severe Shwachman-Diamond syndrome and invasive parvovirus B19 infection.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders Mesangioproliferative glomerulonephritis associated with retinitis pigmentosa.Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).Management of Kostmann syndrome in the G-CSF era.Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance.Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).Small intestinal absorption of amino acids and a dipeptide in pancreatic insufficiency.Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome.Pearson's syndrome without marrow involvement.Psychological characteristics of children with Shwachman syndrome In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes.Shwachman-Diamond syndrome: UK perspective SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.A case of Shwachman-Diamond syndrome confirmed with genetic analysis in a Korean child.Molecular diagnosis of shwachman-diamond syndrome presenting with pancytopenia at an early age: the first report from Turkey Pancreatic duct ligation after almost complete β-cell loss: exocrine regeneration but no evidence of β-cell regeneration Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Neutropenia and primary immunodeficiency diseases.Primary immunodeficiency diseases associated with neurologic manifestations.Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.Probing the mechanisms underlying human diseases in making ribosomes.Pancreatic exocrine aplasia, clinical features of leprechaunism, and abnormal gonadotropin regulation.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome.Congenital cyclic neutropenia.Immunodeficiency as a component of recognizable syndromes.Shwachman-Diamond syndrome (SDS) in a preterm neonate.Isolated co-lipase deficiency in two brothers.Nephrocalcinosis in Shwachman's syndrome.Immunoreactive trypsin in Shwachman's syndrome.Simplified oral pancreatic function test.

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P2860

Shwachman's syndrome. A review of 21 cases.

http://www.wikidata.org/entity/Q33487201

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1980 nî lūn-bûn

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1980 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1980 թվականի մայիսին հրատարակված գիտական հոդված

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1980年の論文

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1980年論文

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1980年論文

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1980年論文

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1980年論文

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1980年论文

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Shwachman's syndrome. A review of 21 cases.

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Shwachman's syndrome. A review of 21 cases.

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Shwachman's syndrome. A review of 21 cases.

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Shwachman's syndrome. A review of 21 cases.

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Shwachman's syndrome. A review of 21 cases.

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Archives of Disease in Childhood

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Shwachman's syndrome. A review of 21 cases.

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P2093

Aggett PJ

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Cavanagh NP

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Harries JT

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Matthew DJ

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Pincott JR

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Sutcliffe J

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P2860

DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia.

Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia.

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

[Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)]

The cell surface.

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

Histamine release from human leukocytes: studies with deuterium oxide, colchicine, and cytochalasin B

Inhibition of release of dopamine- -hydroxylase and norepinephrine from sympathetic nerves by colchicine, vinblastine, or cytochalasin-B (hypogastric nerve stimulation-exocytosis-microtubules-microfilaments-guinea pig)

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331-347

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10.1136/ADC.55.5.331

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55

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1980-05-01T00:00:00Z

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15761570

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7436469

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1626878

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