Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

MJ Sobrido, P Bauer, T De Koning, T Klopstock… - Orphanet journal of rare …, 2019 - Springer
Background Rare and ultra-rare diseases (URDs) are often chronic and life-threatening
conditions that have a profound impact on sufferers and their families, but many are …

[图书][B] Vom Anfang und Ende der Schizophrenie: Eine neuropsychiatrische Perspektive auf das Schizophrenie-Konzept

LT Van Elst - 2021 - books.google.com
Die Schizophrenie gehört zu den dramatischsten Diagnosen der Medizin. Kaum eine
andere Diagnose wird so sehr gefürchtet und von Betroffenen wie Angehörigen als Makel …

Clinical Note: Bipolar disorder in Cerebrotendinous Xanthomatosis: a case report

M Migoya-Borja, F Cegla-Schvartzman… - Actas Españolas de …, 2021 - actaspsiquiatria.es
Cerebrotendinous X anthomatosis (CTX) is a rare autosomal recessive disorder presenting
with possible psychiatric manifestations that, once established, are difficult to control. We …

11.4 Explorations biologiques

G Martinez, MF Poirier - Manuel de psychiatrie, 2021 - books.google.com
Bien que la psychiatrie soit une discipline éminemment clinique, les explorations
biologiques occupent une place de plus en plus importante; en recherche évidemment …

Nota Clínica: Trastorno bipolar en xantomatosis cerebrotendinosa: a propósito de un caso.

M Migoya-Borja, F Cegla-Schvartzman… - Actas Espanolas de …, 2021 - search.ebscohost.com
La xantomatosis cerebrotendinosa (XCT) es una rara enfermedad autosómica recesiva que
puede cursar con manifestaciones psiquiátricas cuyo tratamiento puede resultar complejo …

Neurologic and Psychiatric Disorders

F D'onofrio - Ventilatory Support and Oxygen Therapy in Elder …, 2020 - Springer
The brain is susceptible to a shortage of oxygen. The encephalopathy may be secondary to
the failure of another such as lung and heart. The clinical pattern of this link is hypoxaemic …

[图书][B] The occurrence of metabolic and inflammatory causes of psychosis in admissions to a psychiatric unit

GF Fanea - 2018 - search.proquest.com
BACKGROUND: Psychosis is a devastating psychiatric condition that consists of abnormal
thinking and perceptions. In the majority of adult psychotic illnesses, a cause is neither …

[PDF][PDF] Troubles neuropsychiatriques et paragangliomes: à propos de deux cas de co-agrégation familiale

B Chaumette - 2016 - researchgate.net
Historiquement les cas cliniques ont joué un rôle certain dans l'évolution de la psychiatrie.
Dans son Introduction à la psychiatrie clinique, E. Kraepelin tente de construire une …