(Q48027732)

7 February 2018

title

Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant (English)

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7 February 2018

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1

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7 February 2018

Robert J. Desnick

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object named as

R J Desnick

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7 February 2018

Edward H Schuchman

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object named as

E H Schuchman

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7 February 2018

author name string

J B S Coulter

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7 February 2018

G T N Besley

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7 February 2018

I Ellis

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7 February 2018

A Vellodi

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7 February 2018

publication date

1 January 2003

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7 February 2018

Journal of Inherited Metabolic Disease

published in

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7 February 2018

volume

26

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7 February 2018

issue

8

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7 February 2018

page(s)

775-785

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7 February 2018

https://scigraph.springernature.com/pub.10.1023/b:boli.0000009950.81514.c8

exact match

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cites work

Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients

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12 December 2020

Treatment of Niemann-Pick disease type B by allogeneic bone marrow transplantation

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Bone marrow transplantation in acid sphingomyelinase-deficient mice: engraftment and cell migration into the brain as a function of radiation, age, and phenotype.

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12 December 2020

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms

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12 December 2020

Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters

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12 December 2020

Bone-Marrow Transplantation in the Maroteaux–Lamy Syndrome (Mucopolysaccharidosis Type VI)

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12 December 2020

Prospective evaluation of neurological complications after allogeneic bone marrow transplantation

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12 December 2020

Macula halo syndrome. Variant of Niemann-Pick disease

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12 December 2020

Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT

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12 December 2020

Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient mice

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12 December 2020

Two dimensional then layer chromatographic separation of polar lipids and determination of phospholipids by phosphorus analysis of spots.

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12 December 2020

Macular halos associated with Niemann-Pick type B disease

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12 December 2020

Severe neurologic complications after hematopoietic stem cell transplantation in children

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12 December 2020

Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation

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12 December 2020

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate

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12 December 2020

RETINAL INVOLVEMENT WITH RETICULOENDOTHELIOSIS OF UNCLASSIFIED TYPE.

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12 December 2020

Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease type B

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12 December 2020

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

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12 December 2020

Angiitis of the central nervous system after allogeneic bone marrow transplantation?

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12 December 2020

The human gene mutation database

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12 December 2020

Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

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12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

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12 December 2020

Niemann-Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl)

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12 December 2020

Bone marrow transplantation for Niemann‐Pick Type IA disease

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12 December 2020

Niemann-Pick disease type B with ocular involvement: report of a case

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12 December 2020

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

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12 December 2020

Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms.

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12 December 2020

10.1023/B:BOLI.0000009950.81514.C8

Identifiers

DOI

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7 February 2018

Dimensions Publication ID

1030412602

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7 February 2018