Titlebook: JIMD Reports - Case and Research Reports, 2012/3; SSIEM Book 2012 SSIEM and Springer-Verlag Berlin Heidelberg 2012 endocrinology.inherited

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Andrea Mignarri,Claudia Vinciguerra,Antonio Giorgio,Sacha Ferdinandusse,Hans Waterham,Ronald Wandersct in “insensible” sweating responses from sweat glands/ducts at the folds: this defect could start with leakage of sweat from the glands/ducts, thereby not only providing an inflammatory milieu but also resulting in dry skin. As a next step, compensatory hyperhidrosis would occur preferentially in

CHASE

DAMN

Mei-Ying Liu,Tze-Tze Liu,Yang-Ling Yang,Ying-Chen Chang,Ya-Ling Fan,Shu-Fen Lee,Yu-Ting Teng,Szu-Hui the moistness of the stratum corneum and to regulate temperature. Disruption or dysfunction of these mechanisms impairs skin homeostasis and allows the invasion of pathogens from outside. Development of internal inflammation causes external barrier disruption in turn. This vicious cycle contributes

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Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Dis

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Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutationed the amino acid change Thr259Ala (A775G). Based on crystallographic modeling, this change is predicted to be deleterious, as threonine 259 is positioned proximal to the HexA alpha subunit active site and helps to stabilize key residues therein. Accordingly, if individuals are screened for TSD in b

Folklore

A Novel Mutation in , Resulting in Hepatic CPT Deficiency,utes to a hydrogen bond network with neighboring residues Cys304 and Met593 but does not participate in the catalysis and carnitine pocket. Its replacement by tryptophan induces steric hindrance with the side chain of Ile480 located in α-helix 12, affecting protein architecture and function. This hi