Results 191 to 200 of about 25,072 (275)

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
Schiffmann R.
europepmc   +1 more source

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2015
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study [PDF]

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Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

MOESM1 of Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

, 2017
Isabel Castro-Orós, Pilar Irún Irún, Jorge J Cebolla, Victor Rodriguez-Sureda, Miguel Angel Mallén, María Pueyo, Pilar Mozas, Carmen Domínguez, Miguel Pocoví   +8 more
openalex   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

A Niemann-Pick betegség felnőtt pszichiátriai vonatkozásai [PDF]

, 2013
Döme, Péter, Faludi, Gábor, Gonda, Xénia   +2 more
core  

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes. [PDF]

Front Neurol
Brémovà-Ertl T, Tahirovic S, Katušić Hećimović S, Martakis K, Rohrbach M, Gautschi M, Dhamija R, Ganesh J, Peters M, Walterfang M, Schneider SA.   +10 more
europepmc   +1 more source

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).

Jorge L. Rodriguez-Gil, Wendy E. Smith, Irene J. Chang, Bryce A. Mendelsohn,   +4 more
openalex   +2 more sources

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
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