Familiäre Cystindiathese.

Abderhalden, Emil

doi:10.1515/bchm2.1903.38.5-6.557

Cited by 94 publications

(24 citation statements)

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“…In 1903, he described a child with severe growth failure in infancy who had cystine crystals in the liver and spleen at autopsy [1]. Tissue accumulation of cystine remains the diagnostic hallmark of cystinosis.…”

Section: Cystine Accumulation In Cystinosismentioning

confidence: 99%

The History of Cystinosis: Lessons for Clinical Management

Goodyer

2011

International Journal of Nephrology

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Cystinosis is a rare disorder, and, accordingly, progress on the understanding and treatment of this disease has been relatively slow. Although cystinosis was identified over 100 years ago, the history of cystinosis is marked by a few sudden leaps forward in our understanding rather than by a sustained research effort fuelled by the larger research community. Major conceptual break-throughs include (a) its discovery in 1903, (b) recognition of the renal Fanconi syndrome, (c) realization that tissue accumulation of cystine reflects a defective channel in the lysosomal membrane, (d) translation of this discovery to trials of cysteamine, (e) discovery of the CTNS gene, and (f) report of successful stem cell therapy in the cystinotic mouse. This paper focuses on the importance management lessons from these milestones and the potential new therapeutic strategies which may be looming in the near future.

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Section: Cystine Accumulation In Cystinosismentioning

confidence: 99%

The History of Cystinosis: Lessons for Clinical Management

Goodyer

2011

International Journal of Nephrology

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“…Like SD and ISSD, cystinosis (OMIM 219800) is an autosomal recessive lysosomal storage disorder, which was first described by Abderhalden (1903). There are two main variants of cystinosis: the nephropathic type, which can be further subdivided depending on the age of onset; and the nonnephropathic, benign type.…”

Section: Cystinosismentioning

confidence: 99%

Sialic Acid Storage Disease and Related Disorders

Strehle¹

2003

Genetic Testing

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This paper gives an overview of the two sialic acid storage disorders, Salla disease and infantile sialic acid storage disease, and the related disorders cystinosis, sialuria, sialidosis, and galactosialidosis. Sialic acid storage disease and cystinosis are models for a deficient lysosomal transport of monosaccharides and amino acids, respectively. Several gene mutations leading to the production of the faulty membrane proteins sialin and cystinosin have been identified in recent years. Knowledge of the underlying pathophysiology is a prerequisite for future research projects, which will focus on the expression of the disease genes in living systems and the physical characterization of these proteins by X-ray crystallography and nuclear magnetic resonance spectroscopy.

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“…(Abderhalden, 1903). Dans les années 1930 on identifia la cystinose comme une cause de glycosurie non diabétique, on nota également une association avec le rachitisme rénal (syndrome de Fanconi) et un retard staturo-pondéral (Fanconi, 1936).…”

Section: Deuxieme Partie éTude Clinique Génétique Et éPidémiologique Deunclassified

Etude clinique genetique et epidemiologique du syndrome de Zellweger et de la cystinose au Saguenay-Lac-St-Jean

Brassard¹

1993

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Familiäre Cystindiathese.

Cited by 94 publications

References 0 publications

The History of Cystinosis: Lessons for Clinical Management

The History of Cystinosis: Lessons for Clinical Management

Sialic Acid Storage Disease and Related Disorders

Etude clinique genetique et epidemiologique du syndrome de Zellweger et de la cystinose au Saguenay-Lac-St-Jean

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