Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.

The Journal of physiology·2012

Advantages of indium-tin oxide-coated glass slides in correlative scanning electron microscopy applications of uncoated cultured cells.

Journal of microscopy·2009

Cost of the meticillin-resistant Staphylococcus aureus search and destroy policy in a Dutch university hospital.

The Journal of hospital infection·2008

Activation of glucose transport and AMP-activated protein kinase during muscle contraction in adenylate kinase-1 knockout mice.

Acta physiologica (Oxford, England)·2007

Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).

European journal of pediatrics·2007

An adenylate kinase is involved in KATP channel regulation of mouse pancreatic beta cells.

Diabetologia·2007

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Response surface methodology-optimized microwell spectrophotometric method for saxagliptin quantitation: a sustainable, high-throughput approach for pharmaceutical quality control.

Analytical methods : advancing methods and applications·2026

Forensic integrity of blood alcohol sampling in the emergency department, Part II: Establishing quality goals of turnaround time with Monte Carlo simulation.

Biochemia medica·2026

DT-TRAP enables accurate target recognition via simplified dosing and low-temperature incubation.

Journal of pharmaceutical analysis·2026

A 3D correlation spectroscopy framework for spectral feature decoupling: Enabling precise authentication and quantification of dairy cream fat adulteration.

Analytica chimica acta·2026

Computed tomography based three-dimensional analysis of side-to-side differences between metacarpals.

The Journal of hand surgery, European volume·2026

Real-world safety signals of fezolinetant in women with menopausal vasomotor symptoms: a pharmacovigilance analysis of the WHO VigiAccess database.

Menopause (New York, N.Y.)·2026

Related Experiment Videos

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

Related Concept Videos

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.

Advantages of indium-tin oxide-coated glass slides in correlative scanning electron microscopy applications of uncoated cultured cells.

Cost of the meticillin-resistant Staphylococcus aureus search and destroy policy in a Dutch university hospital.

Activation of glucose transport and AMP-activated protein kinase during muscle contraction in adenylate kinase-1 knockout mice.

Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age).

An adenylate kinase is involved in KATP channel regulation of mouse pancreatic beta cells.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

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Response surface methodology-optimized microwell spectrophotometric method for saxagliptin quantitation: a sustainable, high-throughput approach for pharmaceutical quality control.

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Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

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