MANNOSIDOSIS - PHENOTYPE OF A SEVERELY AFFECTED CHILD AND CHARACTERIZATION OF ALPHA-MANNOSIDASE ACTIVITY IN CULTURED FIBROBLASTS FROM PATIENT AND HIS PARENTS

被引：24

作者：

AYLSWORTH, AS

TAYLOR, HA

STUART, CM

THOMAS, GH

机构：

[1] UNIV N CAROLINA, SCH MED, DEPT PEDIAT, CHAPEL HILL, NC USA

[2] JOHN F KENNEDY INST, BALTIMORE, MD USA

[3] UNIV N CAROLINA, SCH MED, CHILD DEV INST, CHAPEL HILL, NC USA

[4] JOHNS HOPKINS UNIV, SCH MED, BALTIMORE, MD USA

来源：

JOURNAL OF PEDIATRICS | 1976年 / 88卷 / 05期

关键词：

D O I：

10.1016/S0022-3476(76)81120-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：814 / 818

页数：5

共 11 条

[1] MANNOSIDOSIS - CLINICAL, FINE-STRUCTURAL AND BIOCHEMICAL FINDINGS IN 3 CASES [J].

AUTIO, S ;

NORDEN, NE ;

OCKERMAN, PA ;

RIEKKINEN, P ;

RAPOLA, J ;

LOUHIMO, T .

ACTA PAEDIATRICA SCANDINAVICA, 1973, 62 (06) :555-565

[2]

GEHLER J, 1975, BIRTH DEFECTS OAS

[3]

KJELLMAN B, 1967, J PEDIATR, V70, P383

[4] URINARY MANNOSE IN MANNOSIDOSIS [J].

NORDEN, NE ;

OCKERMAN, PA ;

SZABO, L .

JOURNAL OF PEDIATRICS, 1973, 82 (04) :686-688

[5]

OCKERMAN PA, 1967, LANCET, V2, P239

[6] MANNOSIDOSIS - ISOLATION OF OLIGOSACCHARIDE STORAGE MATERIAL FROM BRAIN [J].

OCKERMAN, PA .

JOURNAL OF PEDIATRICS, 1969, 75 (03) :360-&

[7] A MODIFIED SCREENING TEST FOR GLYCOSAMINOGLYCAN EXCRETION [J].

PENNOCK, CA .

JOURNAL OF CLINICAL PATHOLOGY, 1969, 22 (03) :379-&

[8]

TAYLOR HA, 1973, CLIN GENET, V4, P388

[9] MANNOSIDOSIS - DEFICIENCY OF A SPECIFIC ALPHA-MANNOSIDASE COMPONENT IN CULTURED FIBROBLASTS [J].

TAYLOR, HA ;

THOMAS, GH ;

AYLSWORTH, A ;

STEVENSON, RE ;

REYNOLDS, LW .

CLINICA CHIMICA ACTA, 1975, 59 (01) :93-99

[10] MUCOLIPIDOSIS-III (PSEUDO-HURLER POLYDYSTROPHY) - MULTIPLE LYSOSOMAL ENZYME ABNORMALITIES IN SERUM AND CULTURED FIBROBLAST CELLS [J].

THOMAS, GH ;

TAYLOR, HA ;

REYNOLDS, LW ;

MILLER, CS .

PEDIATRIC RESEARCH, 1973, 7 (09) :751-756

← 1 2 →