[2 cases of type C Niemann-Pick disease]

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Analytical biochemistry·2017

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

Advances in clinical chemistry·2016

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.

Folia biologica·2016

Rapid isolation of lysosomal membranes from cultured cells.

Folia biologica·2013

[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].

Casopis lekaru ceskych·2012

[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis].

Vnitrni lekarstvi·2012

[Growth, development and prediction of body height in children with central precocious puberty after 3 years of therapy with Decapeptyl-Depot, a slow-releasing GnRH agonist].

Ceskoslovenska pediatrie·1994

[Dangers in external treatment of skin diseases in childhood].

Ceskoslovenska pediatrie·1994

[The effect of growth hormone therapy on thyroid parameters].

Ceskoslovenska pediatrie·1994

[Long-term therapy of central precocious puberty in girls with the gonadoliberin analog D-Trp-6-LHRH after prior therapy with cyproterone acetate].

Ceskoslovenska pediatrie·1994

[Improvement in the prognosis for growth in a boy with central precocious puberty and growth hormone deficiency treated concurrently with growth hormone and D-Trp-6-LHRH gonadoliberin analog].

Ceskoslovenska pediatrie·1994

[D-Trp-6 gonadotropin analog releasing hormone (Decapeptyl-Depot)-- the drug of choice in central idiopathic precocious puberty].

Ceskoslovenska pediatrie·1994

Topical Menthol Cream for Refractory Localized Neuropathic Pain: A Multicenter Retrospective Study.

Journal of pain & palliative care pharmacotherapy·2026

A proteomic analysis of the PHF-forming tau fragment (tau297-391) following uptake into differentiated human neuronal SHSY5Y cells.

Bioscience reports·2026

A combined artificial intelligence-wet lab approach identifies a pivotal role of the NAD+-mitophagy axis on aging and neurodegeneration.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Difficult Airway Management After Refusal of Awake Fibreoptic Intubation in a Giant Facial Plexiform Neurofibroma.

Cureus·2026

Mitochondria-containing large extracellular vesicles target mouse motor neurons upon intramuscular injection.

Extracellular vesicle·2026

More Than Muscle Aches: A Case of Statin-Associated Necrotizing Myositis.

Cureus·2026

Related Experiment Videos

[2 cases of type C Niemann-Pick disease]

Related Concept Videos

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.

Rapid isolation of lysosomal membranes from cultured cells.

[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].

[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis].

[Growth, development and prediction of body height in children with central precocious puberty after 3 years of therapy with Decapeptyl-Depot, a slow-releasing GnRH agonist].

[Dangers in external treatment of skin diseases in childhood].

[The effect of growth hormone therapy on thyroid parameters].

[Long-term therapy of central precocious puberty in girls with the gonadoliberin analog D-Trp-6-LHRH after prior therapy with cyproterone acetate].

[Improvement in the prognosis for growth in a boy with central precocious puberty and growth hormone deficiency treated concurrently with growth hormone and D-Trp-6-LHRH gonadoliberin analog].

[D-Trp-6 gonadotropin analog releasing hormone (Decapeptyl-Depot)-- the drug of choice in central idiopathic precocious puberty].

Topical Menthol Cream for Refractory Localized Neuropathic Pain: A Multicenter Retrospective Study.

A proteomic analysis of the PHF-forming tau fragment (tau297-391) following uptake into differentiated human neuronal SHSY5Y cells.

A combined artificial intelligence-wet lab approach identifies a pivotal role of the NAD+-mitophagy axis on aging and neurodegeneration.

Difficult Airway Management After Refusal of Awake Fibreoptic Intubation in a Giant Facial Plexiform Neurofibroma.

Mitochondria-containing large extracellular vesicles target mouse motor neurons upon intramuscular injection.

More Than Muscle Aches: A Case of Statin-Associated Necrotizing Myositis.

Related Experiment Videos

[2 cases of type C Niemann-Pick disease]

Related Concept Videos

Related Articles