PROGRESSIVE FATAL PANCYTOPENIA, PSYCHOMOTOR RETARDATION AND MUSCLE CARNITINE DEFICIENCY IN A CHILD WITH ETHYLMALONIC ACIDURIA AND ETHYLMALONIC ACIDEMIA

被引：10

作者：

HOFFMANN, GF

HUNNEMAN, DH

JAKOBS, C

WILICHOWSKI, E

EBER, SW

HANEFELD, F

RATING, D

REICHMANN, H

机构：

[1] UNIV GOTTINGEN,DEPT CHILD NEUROL,W-3400 GOTTINGEN,GERMANY

[2] UNIV GOTTINGEN,DEPT PHYSIOL,W-3400 GOTTINGEN,GERMANY

[3] UNIV GOTTINGEN,DEPT PAEDIAT,W-3400 GOTTINGEN,GERMANY

[4] FREE UNIV AMSTERDAM HOSP,DEPT PAEDIAT,AMSTERDAM,NETHERLANDS

[5] UNIV WURZBURG,DEPT NEUROL,W-8700 WURZBURG,GERMANY

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 03期

关键词：

D O I：

10.1007/BF01799389

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：337 / 340

页数：4

共 7 条

[1] ETHYLMALONIC ACIDURIA ASSOCIATED WITH PROGRESSIVE NEUROLOGICAL DISEASE AND PARTIAL CYTOCHROME-C-OXIDASE DEFICIENCY
LEHNERT, W
RUITENBEEK, W
JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (03) : 557 - 559
[2] ENCEPHALOPATHY, PETECHIAE AND ACROCYANOSIS WITH ETHYLMALONIC ACIDURIA ASSOCIATED WITH MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY - REPLY
BURLINA, AB
RINALDO, P
JOURNAL OF PEDIATRICS, 1994, 125 (05): : 843 - 844
[3] MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN 2 ITALIAN PATIENTS WITH ETHYLMALONIC ACIDURIA AND PECULIAR CLINICAL PHENOTYPE
GARAVAGLIA, B
COLAMARIA, V
CARRARA, F
TONIN, P
RIMOLDI, M
UZIEL, G
JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (03) : 301 - 303
[4] SUDDEN-INFANT-DEATH-SYNDROME AND MULTIPLE ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY, ETHYLMALONIC-ADIPIC ACIDURIA, OR SYSTEMIC CARNITINE DEFICIENCY
HARPEY, JP
CHARPENTIER, C
COUDE, M
DIVRY, P
PATURNEAUJOUAS, M
JOURNAL OF PEDIATRICS, 1987, 110 (06): : 881 - 884
[5] POSSIBLE DELETERIOUS EFFECT OF L-CARNITINE SUPPLEMENTATION IN A PATIENT WITH MILD MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY (ETHYLMALONIC-ADIPIC ACIDURIA)
GREEN, A
PREECE, MA
DESOUSA, C
POLLITT, RJ
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (05) : 691 - 697
[6] NON-PROGRESSIVE PSYCHOMOTOR RETARDATION IN A CHILD WITH SEVERE DEFICIENCY OF ARYLSULFATASE-A ACTIVITY
DANESINO, C
DAZZO, A
ARICO, M
PODESTA, AF
BELUFFI, G
BIANCHI, E
CLINICAL GENETICS, 1984, 26 (05) : 462 - 471
[7] PROGRESSIVE CEREBELLAR-ATAXIA, SPASTICITY, PSYCHOMOTOR RETARDATION, AND HEXOSAMINIDASE DEFICIENCY IN A 10-YEAR-OLD CHILD - JUVENILE SANDHOFF DISEASE
MACLEOD, PM
WOOD, S
JAN, JE
APPLEGARTH, DA
DOLMAN, CL
NEUROLOGY, 1977, 27 (06) : 571 - 573

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