<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, +17

Journal of Medical Genetics

Propionic acidemia: neonatal versus selective metabolic screening

Sarah C. Grünert, S. Müllerleile, L. de Silva, +26

Journal of Inherited Metabolic Disease

Mutation analysis in 54 propionic acidemia patients

Jan P. Kraus, Elaine Spector, Sarah Venezia, +32

Journal of Inherited Metabolic Disease

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

M. Barth, Chris Ward, Ann Harris, +2

Journal of Medical Genetics

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

M. Barth, Anthony H. Fensom, Ann Harris

Human Genetics

Mendelian DisorderAutoimmune DiseaseArylsulphatase A GeneGenetic DisorderGenetics +9

Mutation update and uncommon phenotypes in a French cohort of 96 patients with <i><scp>WFS1</scp></i>‐related disorders

Annabelle Chaussenot, Cécile Rouzier, M.P. Quéré, +10

Clinical Genetics

GeneticsUncommon PhenotypesGenetic EpidemiologyPathologyDisease Gene Identification +16

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.

Marcos Borato Viana, Roberto Giugliani, V H Leite, +4

Journal of Medical Genetics

Non-neuropathic Niemann-pick DiseasePathologySerum Acid PhosphataseHyperlipidemiaAffected Children +14

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

Andrew J. Walley, M. Barth, Ian O. Ellis, +2

Journal of Medical Genetics

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

Joël Zlotogora, Yael Furman‐Shaharabani, Ann Harris, +3

Journal of Medical Genetics

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Marie‐Aude Spitz, My Anh Nguyen, Sylvain Roche, +12

JIMD Reports