Prolidase deficiency. A metabolic disorder presenting with dermatologic signs

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

European journal of human genetics : EJHG·2013

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome.

Neurology·2004

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.

Journal of medical genetics·2003

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

American journal of human genetics·2002

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

Clinical dysmorphology·2001

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

American journal of medical genetics·2001

Reflectance Confocal Microscopy Versus Line-Field Confocal Optical Coherence Tomography in Facial and Scalp Lesions Suspicious for Basal Cell Carcinoma: A Histopathology-Referenced Multi-Reader Study.

International journal of dermatology·2026

Prognostic Impact of Detection Patterns, Reasons for Consultation, and Sex Differences in Melanoma Among Young Adults: A 30-Year Retrospective Cohort Study.

International journal of dermatology·2026

Bereavement and Dermatologic Disease: An Underrecognized Clinical Consideration.

International journal of dermatology·2026

Cheek Merkel Cell Carcinoma Is Associated With Increased Nodal and Parotid Involvement.

International journal of dermatology·2026

Linear Focal Elastosis: Diagnostic Criteria, Classification, and a Practical Approach Based on Seven Cases and a Literature Review.

International journal of dermatology·2026

The Cape Town Action Plan for Neglected Tropical Skin Diseases: From Workshop Consensus to Health-System Action.

International journal of dermatology·2026

Post-translational modifications in sepsis-induced myocardial dysfunction - Molecular mechanisms and therapeutic targets: A review.

Biomolecules & biomedicine·2026

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Clinical chemistry·2026

Hyperkalemia in Severe Burn Injuries: Pathogenesis and Therapeutic Advances.

Journal of community hospital internal medicine perspectives·2026

Protein carbonyl: A sensitive marker reflecting oxidative stress in prevalent hemodialysis patients.

World journal of nephrology·2026

Protein Homeostasis and Mitochondrial Quality Control in Neurodegeneration.

WIREs mechanisms of disease·2026

Regional reduction of high-energy phosphorus metabolites characterizes the cerebellar subtype of multiple system atrophy.

NPJ Parkinson's disease·2026

Related Experiment Videos

Prolidase deficiency. A metabolic disorder presenting with dermatologic signs

Related Concept Videos

Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

Integrative cortical dysfunction and pervasive motion perception deficit in fragile X syndrome.

Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.

A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay.

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

Reflectance Confocal Microscopy Versus Line-Field Confocal Optical Coherence Tomography in Facial and Scalp Lesions Suspicious for Basal Cell Carcinoma: A Histopathology-Referenced Multi-Reader Study.

Prognostic Impact of Detection Patterns, Reasons for Consultation, and Sex Differences in Melanoma Among Young Adults: A 30-Year Retrospective Cohort Study.

Bereavement and Dermatologic Disease: An Underrecognized Clinical Consideration.

Cheek Merkel Cell Carcinoma Is Associated With Increased Nodal and Parotid Involvement.

Linear Focal Elastosis: Diagnostic Criteria, Classification, and a Practical Approach Based on Seven Cases and a Literature Review.

The Cape Town Action Plan for Neglected Tropical Skin Diseases: From Workshop Consensus to Health-System Action.

Post-translational modifications in sepsis-induced myocardial dysfunction - Molecular mechanisms and therapeutic targets: A review.

Quantification of Proinsulin in Human Plasma by Proteolysis-Aided Peptide Immunoaffinity-Liquid Chromatography-Tandem Mass Spectrometry.

Hyperkalemia in Severe Burn Injuries: Pathogenesis and Therapeutic Advances.

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Prolidase deficiency. A metabolic disorder presenting with dermatologic signs

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