Shwachman-Diamond syndrome is associated with low-turnover osteoporosis (Q24296683)

GOA release 2020-03-11

bone mineralization

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Shwachman-Diamond syndrome

GOA release 2020-03-11

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12

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Marc Grynpas

5

object named as

Marc Grynpas

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Shirō Ikegawa

7

object named as

Shiro Ikegawa

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author name string

Sanna Toiviainen-Salo

1

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Mervi K Mäyränpää

2

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Peter R Durie

3

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Nicole Richards

4

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Lynda Ellis

6

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William G Cole

8

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Johanna Rommens

9

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Eino Marttinen

10

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Erkki Savilahti

Identification of novel mutations in patients with Shwachman-Diamond syndrome

11

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language of work or name

English

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publication date

December 2007

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published in

Bone

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volume

41

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issue

6

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page(s)

965-72

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cites work

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Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects

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Shwachman-Diamond syndrome: clinical, radiological and sonographic findings

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The effect of vitamin K and D supplementation on ovariectomy-induced bone loss

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Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

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Depressed levels of circulating menaquinones in patients with osteoporotic fractures of the spine and femoral neck

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Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis

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Bone densitometry in pediatric populations: discrepancies in the diagnosis of osteoporosis by DXA and CT.

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Phylogeny, sequence conservation, and functional complementation of the SBDS protein family

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Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

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Importance of lean mass in the interpretation of total body densitometry in children and adolescents

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THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

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Percentile curves for hemoglobin and red cell volume in infancy and childhood

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Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

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Vitamin K and bone health

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Normative data for iliac bone histomorphometry in growing children.

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Mutations in SBDS are associated with Shwachman-Diamond syndrome

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The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

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Shwachman-diamond syndrome.

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Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

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The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism

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Comparison of two methods for transforming height and weight to normality

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Magnetic resonance imaging for diagnosis of Shwachman's syndrome

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Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

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CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

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Shwachman's syndrome. A review of 21 cases

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Serum immunoreactive cationic trypsinogen: a useful indicator of severe exocrine dysfunction in the paediatric patient without cystic fibrosis

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The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

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Osteoporosis and osteopenia in adults and adolescents with cystic fibrosis: prevalence and associated factors

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Low bone mineral density in adults with cystic fibrosis

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Shwachman's Syndrome: The Broad Spectrum of Bony Abnormalities

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Metaphyseal Dysostosis and the Associated Syndrome of Pancreatic Insufficiency and Blood Disorders

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Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis

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Osteoclastogenesis during Infective Exacerbations in Patients with Cystic Fibrosis

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Unusual Bone Changes in Exocrine Pancreas Insufficiency with Cyclic Neutropenia

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The Shwachman-Diamond SBDS protein localizes to the nucleolus

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Vitamin D status as a determinant of peak bone mass in young Finnish men.

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Vitamin K status among children with cystic fibrosis and its relationship to bone mineral density and bone turnover

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Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations

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