(Q48694010)

14 February 2018

title

Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. (English)

1 reference

14 February 2018

author name string

Lovell KL

1

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14 February 2018

Matsuura F

2

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14 February 2018

Patterson J

3

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14 February 2018

Baeverfjord G

4

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14 February 2018

Ames NK

5

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14 February 2018

Jones MZ

6

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14 February 2018

publication date

1 June 1997

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14 February 2018

published in

Prenatal Diagnosis

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14 February 2018

volume

17

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14 February 2018

issue

6

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14 February 2018

page(s)

551-557

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14 February 2018

Beta-mannosidosis in two brothers with hearing loss

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Transplantation of fetal hematopoietic stem cells in utero: the creation of hematopoietic chimeras

21 January 2018

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Possible beta-mannosidosis chimera. Altered expression of metabolic perturbations.

21 January 2018

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Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

21 January 2018

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Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis

21 January 2018

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Human beta-mannosidase deficiency associated with peripheral neuropathy

21 January 2018

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Distribution of central nervous system lesions in beta-mannosidosis.

21 January 2018

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Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis.

21 January 2018

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Development and efficacy of ultrasound-guided fetal fluid aspiration techniques for prenatal diagnosis of caprine beta-mannosidosis.

21 January 2018

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Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain

21 January 2018

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Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease

21 January 2018

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Oligosaccharides accumulated in the bovineβ-mannosidosis kidney

21 January 2018

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Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine

21 January 2018

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Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow

21 January 2018

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Caprine beta-mannosidosis: aberrant phenotype in a 5-month-old euthyroid animal

21 January 2018

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Beta-mannosidosis: prenatal biochemical and morphological characteristics

21 January 2018

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Oligosaccharides accumulated in the kidney of a goat with beta-mannosidosis: mass spectrometry of intact permethylated derivatives

21 January 2018

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Induction of hemopoietic chimerism in the caprine fetus by intraperitoneal injection of fetal liver cells

21 January 2018

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Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability

21 January 2018

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Human beta-mannosidase deficiency

21 January 2018

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Beta-mannosidosis and ethanolaminuria in a female patient

21 January 2018

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10.1002/(SICI)1097-0223(199706)17:6<551::AID-PD109>3.0.CO;2-1

21 January 2018

Identifiers

DOI

1 reference

14 February 2018

1 reference

14 February 2018