525 studies found for:    "succinic semialdehyde dehydrogenase deficiency" OR "brain diseases, metabolic, inborn"
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Rank Status Study
21 Not yet recruiting Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
Condition: Wilson Disease
Intervention: Drug: trientine dihydrochloride
22 Completed Taste Evaluation of Different Liquid Formulations With Eliglustat
Condition: Gaucher Disease
Intervention: Drug: eliglustat
23 Recruiting LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
Conditions: Lysosomal Storage Diseases;   Gaucher Disease;   Sphingolipidoses
Intervention:
24 Not yet recruiting MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD)
Condition: Cerebral Adrenoleukodystrophy
Intervention: Biological: Mesenchymal Stem Cells
25 Recruiting CPAP for Infantile Pompe Disease
Condition: Pompe Disease
Intervention: Procedure: continuous positive airway pressure
26 Recruiting Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Salbutamol
27 Recruiting Betaine METABOLISM OF PATIENTS With Homocystinuria
Condition: Homocystinuria
Intervention: Drug: Betaine
28 Recruiting A Long-term Study for the Outcome of Pompe Disease
Condition: Pompe Disease
Intervention:
29 Recruiting Biomarker for Glycogen Storage Diseases
Conditions: Fructose Metabolism, Inborn Errors;   Glycogen Storage Disease;   Glycogen Storage Disease Type I;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Glycogen Storage Disease Type VI;   Glycogen Storage Disease Type VII;   Glycogen Storage Disease Type VIII
Intervention:
30 Not yet recruiting Diet and Exercise in Pompe Disease
Conditions: Pompe Disease;   Glycogen Storage Disease Type II;   Lysosomal Storage Diseases
Intervention: Other: Diet and Exercise
31 Not yet recruiting A Pilot Study of Pyridostigmine in Pompe Disease
Condition: Pompe Disease
Intervention: Drug: Pyridostigmine Bromide
32 Recruiting Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
Condition: Pompe Disease
Interventions: Other: Thoracic MRI;   Other: Spirometry;   Other: Inspiratory Load Compensation;   Other: Maximal Inspiratory Pressure;   Other: Resting Breathing Pattern;   Other: Respiratory Muscle Endurance Test
33 Recruiting Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Condition: Pompe Disease
Interventions: Other: Pulmonary function testing;   Other: Resting breathing pattern;   Other: Respiratory muscle endurance test;   Other: Phrenic nerve stimulation;   Other: Maximal inspiratory pressure;   Other: Forced expiratory testing;   Other: EMG
34 Enrolling by invitation Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
Condition: Leigh Syndrome
Intervention: Drug: EPI-743
35 Completed Clinical Trial of Transtek Body Fat Analyzer (GBF-835-N2 & Other 7 Models)
Conditions: Weight;   Body Fat Disorder
Interventions: Device: Transtek DUT;   Device: Reference
36 Recruiting Distal Thigh Study
Condition: Body Fat Disorder
Intervention: Device: The ZELTIQ System
37 Recruiting The Metabolic Effect of Walnuts in Healthy Subjects
Condition: Lipid Metabolism Disorders
Intervention: Other: walnuts
38 Active, not recruiting Colder Outer Thigh Study
Condition: Body Fat Disorder
Intervention: Device: The Zeltiq System
39 Recruiting Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
Condition: Hereditary Tyrosinemia, Type I
Intervention: Drug: Nitisinone
40 Completed Effect of Carnitine on Uremic Cardiomyopathy
Condition: Disorder of Fatty Acid Metabolism
Intervention: Drug: Intravenous administration of L-carnitine

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Indicates status has not been verified in more than two years