Diagnosis of the neuronal ceroid lipofuscinoses: an update.
Standard
Diagnosis of the neuronal ceroid lipofuscinoses: an update. / Williams, Ruth E; Aberg, Laura; Autti, Taina; Goebel, Hans H; Kohlschütter, Alfried; Lönnqvist, Tuula.
In: BBA-BIOMEMBRANES, Vol. 1762, No. 10, 10, 2006, p. 865-872.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Diagnosis of the neuronal ceroid lipofuscinoses: an update.
AU - Williams, Ruth E
AU - Aberg, Laura
AU - Autti, Taina
AU - Goebel, Hans H
AU - Kohlschütter, Alfried
AU - Lönnqvist, Tuula
PY - 2006
Y1 - 2006
N2 - For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels "infantile NCL", "late infantile NCL" and "juvenile NCL", therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes current methods available to achieve clinical, pathological, biochemical and genetic diagnosis in children presenting with symptoms suggestive of one of the NCLs.
AB - For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels "infantile NCL", "late infantile NCL" and "juvenile NCL", therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes current methods available to achieve clinical, pathological, biochemical and genetic diagnosis in children presenting with symptoms suggestive of one of the NCLs.
M3 - SCORING: Zeitschriftenaufsatz
VL - 1762
SP - 865
EP - 872
JO - BBA-BIOMEMBRANES
JF - BBA-BIOMEMBRANES
SN - 0005-2736
IS - 10
M1 - 10
ER -
