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1.
AJNR Am J Neuroradiol ; 44(7): 846-852, 2023 07.
Article in English | MEDLINE | ID: mdl-37321856

ABSTRACT

BACKGROUND AND PURPOSE: Cerebral maturation in preterm infants predominantly occurs postnatally, necessitating the development of objective bedside markers to monitor this process. This study aimed to develop a straightforward objective Ultrasound Score of Brain Development to assess cortical development in preterm infants. MATERIALS AND METHODS: A total of 344 serial ultrasound examinations from 94 preterm infants born at ≤ 32 weeks of gestation were analyzed to identify brain structures suitable for a scoring system. RESULTS: Among 11 candidate structures, 3 cerebral landmarks were selected due to their correlation with gestational age: the interopercular opening (P < .001), the height of the insular cortex (P < .001), and the depth of the cingulate sulcus (P < .001). These structures can be easily visualized in a single midcoronal view in the plane through the third ventricle and the foramina of Monro. A score point from 0 to 2 was assigned to each measurement, culminating in a total score ranging from 0 to 6. The Ultrasound Score of Brain Development correlated significantly with gestational age (P < .001). CONCLUSIONS: The proposed Ultrasound Score of Brain Development has the potential for application as an objective indicator of brain maturation in correlation with gestational age, circumventing the need to rely on individual growth trajectories and percentiles for each specific structure.


Subject(s)
Brain , Infant, Premature , Infant , Infant, Newborn , Humans , Ultrasonography , Gestational Age , Brain/diagnostic imaging
2.
AJNR Am J Neuroradiol ; 44(6): 707-715, 2023 06.
Article in English | MEDLINE | ID: mdl-37230540

ABSTRACT

BACKGROUND AND PURPOSE: Vein of Galen malformation is a rare congenital cerebrovascular malformation. In affected patients, increased cerebral venous pressure constitutes an important etiologic factor for the development of brain parenchymal damage. The aim of this study was to investigate the potential of serial cerebral venous Doppler measurements to detect and monitor increased cerebral venous pressure. MATERIALS AND METHODS: This was a retrospective monocentric analysis of ultrasound examinations within the first 9 months of life in patients with vein of Galen malformation admitted at <28 days of life. Categorization of perfusion waveforms in the superficial cerebral sinus and veins into 6 patterns was based on antero- and retrograde flow components. We performed an analysis of flow profiles across time and correlation with disease severity, clinical interventions, and congestion damage on cerebral MR imaging. RESULTS: The study included 44 Doppler ultrasound examinations of the superior sagittal sinus and 36 examinations of the cortical veins from 7 patients. Doppler flow profiles before interventional therapy correlated with disease severity determined by the Bicêtre Neonatal Evaluation Score (Spearman ρ = -0.97, P = < .001). At this time, 4 of 7 patients (57.1%) showed a retrograde flow component in the superior sagittal sinus, whereas after embolization, none of the 6 treated patients presented with a retrograde flow component. Only patients with a high retrograde flow component (equal or more than one-third retrograde flow, n = 2) showed severe venous congestion damage on cerebral MR imaging. CONCLUSIONS: Flow profiles in the superficial cerebral sinus and veins appear to be a useful tool to noninvasively detect and monitor cerebral venous congestion in vein of Galen malformation.


Subject(s)
Cerebral Veins , Hyperemia , Vein of Galen Malformations , Infant, Newborn , Humans , Superior Sagittal Sinus/diagnostic imaging , Vein of Galen Malformations/complications , Vein of Galen Malformations/diagnostic imaging , Retrospective Studies , Cerebral Veins/diagnostic imaging , Cerebral Veins/abnormalities , Ultrasonography, Doppler
3.
Eur J Paediatr Neurol ; 25: 5-16, 2020 Mar.
Article in English | MEDLINE | ID: mdl-31941581

ABSTRACT

This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been developed by a group of delegates from relevant specialist societies and organisations; it is the result of an initiative by the German-Speaking Society of Neuropediatrics (GNP), and is supported by the Association of Scientific Medical Societies (AWMF, Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften). A systematic analysis of the literature revealed that only a few adequately-controlled studies exist for this particular age group, while none carries a low risk of bias. For this reason, the diagnostic and therapeutic recommendations largely rely on findings in adult patients with GBS, for which there are a higher number of suitable studies available. Consensus was established using a written, multi-step Delphi process. A high level of consensus could be reached for the crucial steps in diagnosis and treatment. We recommend basing the diagnostic approach on the clinical criteria of GBS and deriving support from CSF and electrophysiological findings. Repetition of invasive procedures that yield ambiguous results is only recommended if the diagnosis cannot be ascertained from the other criteria. For severe or persistently-progressive GBS treatment with intravenous immunoglobulin (IVIG) is recommended, whereas in cases of IVIG intolerance or inefficacy we recommended treatment with plasmapheresis. Corticosteroids are ineffective for GBS but can be considered when acute onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is suspected due to a prolonged disease course. The full German version of the Guideline is available on the AWMF website (https://www.awmf.org/leitlinien/detail/ll/022-008.html).


Subject(s)
Guillain-Barre Syndrome/diagnosis , Guillain-Barre Syndrome/therapy , Adolescent , Child , Delphi Technique , Disease Progression , Female , Humans , Immunoglobulins, Intravenous/therapeutic use , Plasma Exchange
4.
Early Hum Dev ; 115: 77-81, 2017 12.
Article in English | MEDLINE | ID: mdl-28954245

ABSTRACT

BACKGROUND: Very preterm infants more likely exhibit deficient executive functions than term born controls. Delay of gratification, as part of the executive functions, allows for rejecting an immediate in favor of a greater future reward. Time comprehension might help to delay gratification. AIMS: We hypothesized that delay of gratification and time comprehension is less developed in preterm children and that time comprehension is associated with the ability to wait for a greater reward. STUDY DESIGN: Very preterm children (<32weeks' gestation) and term born controls were tested for receptive language skills, time comprehension and delay of gratification at the (corrected) age of 4years. SUBJECTS: 25 preterm subjects (12 female; median: gestational age (GA) 28.3weeks, corrected age 4years, 22days) and 26 controls (16 female, median GA: 40.0weeks, age 4years, 25days) participated. OUTCOME MEASURES: Correct answers in the time comprehension and receptive language task, waiting time in the delay-of-gratification task were measured. RESULTS: Preterm subjects had less time comprehension than controls (43% vs. 53%, p=0.017, one-tailed) but receptive language skills were similar. Waiting time in the delay-of-gratification task was 3:42min in preterm subjects, versus 10:09min in controls (p=0.043, one-tailed). Even after controlling for language skills, waiting time correlated positively with time comprehension in both groups (r=0.399, p=0.004, two-tailed). CONCLUSIONS: Preterm children's time comprehension and delay of gratification ability is impaired. Future research is warranted to investigate whether training in time comprehension increases the ability to delay gratification.


Subject(s)
Comprehension , Delay Discounting , Infant, Premature/psychology , Time Perception , Case-Control Studies , Child Development , Child, Preschool , Female , Humans , Infant, Newborn , Infant, Premature/growth & development , Male
5.
Klin Padiatr ; 228(4): 195-201, 2016 Jul.
Article in German | MEDLINE | ID: mdl-27043080

ABSTRACT

BACKGROUND: Marked progress in neonatology changed care of very preterm infants (VLBW) over the last decades - but also the attitude towards family-centred care (FCC). With the directive of the German Federal Joined Committee (G-BA), politicians recognize the necessity of neonatal FCC. AIM: To evaluate time and personnel costs necessary at a centre of established FCC. METHODS: Elternberatung "Frühstart" is a FCC programme for VLBW and seriously ill neonates from preganancy at risk to follow-up home-visits delivered by one interdisciplinary team. Analysis (2011-2014): 1.) Number of cases /participation in programme, 2.) resources of time, 3) and personnel, 4.) funding, 5) economic impact. RESULTS: 1.1.2011-31.12.2014: 441 cases (total cases: 2 212) participated in the programme. Participation of VLBW: mean 92% (86.4-97,2%). Costs of time are highest in neonates with congenital malformations: median 13.8 h, VLBW: median 11,2 h. Transition to home is most time intensive: median 7,3 (0-42.5) h. In average of 3.1 full-time nurses (part-time workers) are able to counsel 48 families/quarter. In severe cases funding is partly provided by health care insurances for social medical aftercare: positive applications: mean 92.7% (79.6-97.7%). CONCLUSION: Participation in the FCC programme in neonatology is high and costs of time are manageable.


Subject(s)
Congenital Abnormalities/economics , Congenital Abnormalities/nursing , Family Nursing/economics , Health Care Costs/statistics & numerical data , House Calls/economics , Infant, Premature, Diseases/economics , Infant, Premature, Diseases/nursing , Infant, Very Low Birth Weight , Congenital Abnormalities/epidemiology , Cost-Benefit Analysis/statistics & numerical data , Education, Nonprofessional/economics , Education, Nonprofessional/statistics & numerical data , Family Nursing/statistics & numerical data , Female , Germany , Health Resources/economics , Health Resources/statistics & numerical data , House Calls/statistics & numerical data , Humans , Infant, Newborn , Infant, Premature, Diseases/epidemiology , Interdisciplinary Communication , Intersectoral Collaboration , Male , National Health Programs/economics , National Health Programs/statistics & numerical data
6.
Klin Padiatr ; 227(5): 264-8, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25875399

ABSTRACT

BACKGROUND: The aim of this study was to determine whether the aEEG at 7 days of life is influenced by the presence of a PDA in non-sedated extremely low gestational age preterm infants. PATIENTS: We prospectively recruited infants born at less than 28 weeks of gestation between 11/2007 and 12/2009. METHOD: aEEGs were recorded at seven days of life and assessed by using the Burdjalov score and the electronically assessed lower border (eLBA). Kruskal-Wallis-Test and linear regression analysis were performed to determine how GA and a PDA affect the aEEG score and the eLBA. Using linear regression analysis we tested which components of the score are affected by a PDA. RESULTS: We recruited 44 infants with a GA of 26.5/7 (23.4/7-27.6/7) weeks and a birth weight of 837 (461-1230) g. The total sum of score points increased from 4 (1-6) to 8 (5-9) points in infants born at 23/24 weeks and 27 weeks of gestation, respectively. In infants with relevant PDA the aEEG scored lower with 8 (3-10) points compared to those with PDA: 5 (1-8) points. Linear regression analysis showed a positive influence of GA and a negative influence of a PDA on the total score. GA had a positive influence on SWC and the visually assessed LBA. A PDA had a negative influence on continuity. The eLBA increased from 4.61 (3.18-5.53) µV to 5.27 (3.38-6.51) µV in infants of 23/24 vs. 27 gestational weeks, but was not significantly influenced by a PDA. CONCLUSION: A PDA has a negative influence on the total Burdjalov score and continuity at 7 days of age in infants born at less than 28 weeks of gestation. The electrocortical disturbances may be the consequence of a diminished cerebral perfusion in the presence of a PDA.


Subject(s)
Ductus Arteriosus, Patent/physiopathology , Electrocorticography , Infant, Extremely Low Birth Weight/physiology , Brain Damage, Chronic/diagnosis , Brain Damage, Chronic/physiopathology , Cerebral Cortex/blood supply , Cerebral Cortex/physiopathology , Ductus Arteriosus, Patent/diagnosis , Female , Gestational Age , Hemodynamics/physiology , Humans , Infant, Newborn , Male , Prognosis , Prospective Studies
8.
Klin Padiatr ; 227(2): 61-5, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25751679

ABSTRACT

BACKGROUND: Only sparse data exist about children with septic shock in Europe. The present study aimed to evaluate demographics, treatment, outcome and risk factors for mortality in Western Germany. PATIENTS: Children with septic shock aged 2 months to 17 years. METHODS: In a multi-center retrospective study of 20 children's hospitals data were obtained and analyzed by chart review. Risk factors for mortality were identified and assessed by multivariate regression analysis. RESULTS: Overall mortality in 83 cases with septic shock was 25% (21 patients). Significant risk factors were high PRISM III score, low pH, low arterial systolic blood pressure, presence of disseminated intravascular coagulation and extent of multi-organ failure, but not lactate (p=0.05) and base excess (p=0.065). Mortality in hospitals which treated 10 or more patients (category 1) was 17% and increased to 22% in hospitals which treated 3-6 patients (category 2). In hospitals with only 1 or 2 patients (category 3) mortality rate was 61% (p<0.01 when compared to category 1 or 2). A stepwise increase was also seen in the severely sick patients according to PRISM III (>19): category 1: 23%, category 2: 40%, category 3: 62.5% (p<0.05 for comparison of category 1 and 3). Multivariate analysis of significant risk factors revealed low number of treated patients as the only individual risk factor for mortality. CONCLUSION: Mortality from pediatric septic shock in an urban area in Western Germany is high. Disease severity and treatment in a department with few cases were associated with increased mortality.


Subject(s)
Bacterial Infections/epidemiology , Shock, Septic/epidemiology , Urban Population/statistics & numerical data , Virus Diseases/epidemiology , Adolescent , Bacterial Infections/mortality , Bacterial Infections/therapy , Child , Child, Preschool , Combined Modality Therapy , Cross-Sectional Studies , Female , Germany , Hospital Mortality , Hospitals, Pediatric/statistics & numerical data , Hospitals, University/statistics & numerical data , Humans , Infant , Injury Severity Score , Intensive Care Units, Pediatric/statistics & numerical data , Male , Opportunistic Infections/epidemiology , Opportunistic Infections/mortality , Opportunistic Infections/therapy , Prospective Studies , Risk Factors , Shock, Septic/mortality , Shock, Septic/therapy , Treatment Outcome , Virus Diseases/mortality , Virus Diseases/therapy
9.
Klin Padiatr ; 225(4): 201-5, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23873258

ABSTRACT

In the developed countries septic shock has a favorable outcome for the majority of previously healthy children but also in children with comorbidities if all available medical resources were used. However, septic shock remains a rare disease in children, and caregivers might not always recognize it at early stages. The resulting delay of appropriate treatment prevents lower mortality rates. The current review gives an overview of the pathophysiology of septic shock and the early clinical signs as well as new and future diagnostic approaches such as "point-of-care" laboratory tests for an early diagnosis.


Subject(s)
Shock, Septic/diagnosis , Biomarkers/blood , Cell Hypoxia/physiology , Child , Clinical Laboratory Techniques , Early Diagnosis , Hemodynamics/physiology , Humans , Intensive Care Units , Lactic Acid/blood , Microcirculation/physiology , Multiple Organ Failure/diagnosis , Multiple Organ Failure/physiopathology , Oxygen/blood , Point-of-Care Systems , Prognosis , Shock, Septic/physiopathology
10.
Klin Padiatr ; 224(7): 431-6, 2012 Nov.
Article in English | MEDLINE | ID: mdl-23143784

ABSTRACT

BACKGROUND: Elternberatung Frühstart is a family-centred care programme for very preterm infants and seriously ill neonates and their parents. The uniqueness of this programme is in its consistency and continuity in parental counselling from pregnancy at risk to follow-up home visits. PATIENTS AND METHODS: Family-centred care is provided by specialised nurses, a social education worker, a case manager, a psychologist and neonatologists. They give support and information to parents and facilitate transition to home including co-ordination of health care services and support networks. The programme starts with information for parents at risk of preterm delivery to lessen their anxieties and worries. After birth, parental bonding is encouraged and parents are involved in daily care procedures. The following weeks focus on communication, information and education in order to enhance parental competence. Discharge planning and coordinated follow-up visits involve the family doctor and several members of the welfare and health care system. One of the key objectives is to prevent re-hospitalisation. Over a 4 year period 330 families participated. Funding is provided by: 1) the hospital, from admission to discharge equivalent to one full-time nursing staff, 2) charity donations for follow-up visits and 3) health care insurance for social medical aftercare (Bunter Kreis) following §43, 2 SGB V in severe cases. RESULTS: As a result of this programme, the median length of stay was reduced by 24 days; the number of patients that stayed longer than average were reduced by 64% in the group of patients born < 1 500 g. At the same time the patient throughput increased from 243 to 413. CONCLUSION: To conclude, a family-centred care programme with coordinated follow-up increases parental satisfaction, reduces the length of the hospital stay and is therefore profitable.


Subject(s)
Cooperative Behavior , Family Nursing , House Calls , Infant, Extremely Premature , Infant, Premature, Diseases/nursing , Interdisciplinary Communication , Patient Care Team , Cost Savings , Family Nursing/economics , Female , Germany , Home Nursing/education , House Calls/economics , Humans , Infant, Newborn , Infant, Premature, Diseases/economics , Intensive Care Units, Neonatal/economics , Length of Stay/economics , Male , National Health Programs/economics , Parents/education , Patient Care Team/economics , Patient Discharge/economics , Patient Readmission/economics , Pregnancy
11.
Klin Padiatr ; 224(4): 233-40, 2012 Jul.
Article in English | MEDLINE | ID: mdl-22718085

ABSTRACT

Regenerative therapy based on stem cells is applied as standard therapy in pediatric oncology. Furthermore, they are frequently used to treat immunodeficiency disorders of infants. For severe neonatal diseases, e. g. hypoxic-ischemic encephalopathy in term neonates or bronchopulmonary dysplasia in preterm infants, animal models have been established. According to some first preclinical results stem cell administration appears as a promising tool to improve the clinical outcome in high-risk infants. Provided the benefit of regenerative therapies can further be evaluated in appropriate preclinical neonate models, carefully controlled clinical trials to assess the significance of regenerative therapies, such as autologous stem cell administration, are indicated.


Subject(s)
Asphyxia Neonatorum/therapy , Bronchopulmonary Dysplasia/therapy , Cord Blood Stem Cell Transplantation/methods , Hematopoietic Stem Cell Transplantation/methods , Hypoxia-Ischemia, Brain/therapy , Infant, Premature, Diseases/therapy , Animals , Disease Models, Animal , Exosomes/physiology , Humans , Infant, Newborn , Intensive Care Units, Neonatal , Mesenchymal Stem Cells , Stem Cells/physiology , T-Lymphocytes, Regulatory/physiology
12.
Klin Padiatr ; 224(1): 12-6, 2012 Jan.
Article in English | MEDLINE | ID: mdl-22258624

ABSTRACT

BACKGROUND: Sepsis is a common cause of death in children. Early detection of bloodstream pathogens is crucial for the appropriate antibio­tic treatment. Blood cultures (BC) are the gold standard test used for detection. Recently, additional molecular detection methods of microbial DNA by multiplex PCR (SeptiFast, SF) have become available. AIM: Our retrospective study was aimed to compare results of BC to those of SF regarding results and therapeutic relevance. METHOD: We identified a total of 110 SF samples in 75 patients with suspected systemic infection by retrospective chart review. Each patient underwent SF and BC testing simultaneously. RESULTS: The initial analysis displayed no statistical significant difference in positive SF results compared to BC (p=0.19): in 26 of 110 samples (24%) microbial DNA was found. 19 BC (17%) showed microbial growth. 14 samples were positive in SF but negative in BC (13%). In patients who were pretreated with antibiotics (n=97) pathogens were identified in 24 samples by SF (25%) but only in 11 samples by BC (11%). Based on the clinical presentation and the spectrum of bacterial isolates 3 BC were considered contaminated. Considering this, SF yielded pathogens significantly more often than BC in the overall study population (p=0.04). SF results were available at least 31 h before BC results. Based on SF result antibiotic therapy was adjusted in 14 patients (13%). CONCLUSION: Molecular detection of pathogens by SF was faster and more frequently positive than BC. We have therefore demonstrated that SF might be superior to BC in testing for bloodstream pathogens. Prospective multicentric studies are required to determine whether this hypothesis can be maintained.


Subject(s)
Bacterial Infections/diagnosis , Bacterial Infections/microbiology , Critical Illness , DNA, Bacterial/genetics , Multiplex Polymerase Chain Reaction/methods , Sepsis/diagnosis , Sepsis/microbiology , Adolescent , Bacteriological Techniques , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Predictive Value of Tests , Retrospective Studies , Young Adult
13.
Klin Padiatr ; 223(5): 267-70, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21913143

ABSTRACT

6 cases of clinical influenza A/H1N1(2009) infections were reported within the multi-center German Neonatal Network (GNN) during the primary hospital stay in the pandemic season 2009/2010 and 2010/2011. Clinical symptoms varied from transient hyperthermia to apnea and severe respiratory distress. 1 fatal course with systemic inflammatory response after perinatal transmission of A/H1N1(2009) was observed. Oseltamivir treatment in 3/6 infants was without side effects. The reported cases have major implications for the management of VLBW infants: i) fatal courses after perinatal transmission are possible, ii) postnatal A/H1N1(2009) infection may result in life threatening events at a time when the infant is otherwise stable, iii) vaccination should be recommended for parents and medical staff to avoid nosocomial transmission, iv) more data are needed on the benefit and harm of antiviral drugs in preterm infants, v) neonatologists should suspect A/H1N1(2009) infection when unexplained sepsis-like or respiratory symptoms occur in VLBW infants.


Subject(s)
Cross Infection/diagnosis , Infant, Extremely Low Birth Weight , Infant, Premature, Diseases/diagnosis , Infant, Very Low Birth Weight , Influenza A Virus, H1N1 Subtype , Influenza, Human/diagnosis , Antiviral Agents/therapeutic use , Cause of Death , Cross Infection/etiology , Cross Infection/mortality , Cross Infection/transmission , Diagnosis, Differential , Female , Germany , Gestational Age , Humans , Infant, Newborn , Infant, Premature, Diseases/drug therapy , Infant, Premature, Diseases/mortality , Influenza, Human/etiology , Influenza, Human/mortality , Influenza, Human/transmission , Male , Oseltamivir/therapeutic use , Pneumonia, Viral/diagnosis , Pneumonia, Viral/drug therapy , Pneumonia, Viral/mortality , Pneumonia, Viral/transmission , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/drug therapy , Respiratory Distress Syndrome, Newborn/mortality , Risk Factors , Sepsis/diagnosis , Sepsis/drug therapy , Sepsis/mortality , Survival Rate
15.
Ultrasound Obstet Gynecol ; 17(3): 248-51, 2001 Mar.
Article in English | MEDLINE | ID: mdl-11309177

ABSTRACT

We report fetal intracranial hemorrhage in term siblings from consanguineous parents, spontaneously occurring in the third trimester of pregnancy. Prenatal ultrasound in one case and postnatal MRI in both demonstrated massive parenchymal bleeding involving large areas of the cerebral cortex, white and gray matter. Vasculopathies, vascular malformations, coagulopathies, thrombocytopenia and relevant metabolic disorders could be excluded.


Subject(s)
Fetal Diseases/diagnostic imaging , Fetal Diseases/genetics , Intracranial Hemorrhages/diagnostic imaging , Intracranial Hemorrhages/genetics , Ultrasonography, Prenatal , Brain/pathology , Female , Fetal Diseases/pathology , Humans , Intracranial Hemorrhages/pathology , Magnetic Resonance Imaging , Pregnancy , Pregnancy Trimester, Third
16.
Neuropediatrics ; 31(2): 104-6, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10832587

ABSTRACT

We report on a premature newborn girl delivered after 32 weeks of gestation by cesarean section after sparse limb movements, fetal tachycardia and late heart rate decelerations had suggested fetal distress. Following 1 day of mechanical ventilation, adequate pulmonary gas exchange was achieved by spontaneous breathing. Main symptoms were virtually complete absence of spontaneous movements, increased flexor tonus of the extremities, and hypotonia of the trunk. Inability to suck or swallow required nasogastric gavage feeding. There were no hypoglycemic episodes. Echocardiography revealed normal myocardial function. Creatine kinase was 237 U/I at 2 days of life, declining to normal values thereafter. Muscle biopsy revealed increased glycogen storage with subsarcolemmal glycogen deposits and low phosphorylase-a activity while total phosphorylase was normal after in vitro activation, suggestive of phosphorylase-b kinase deficiency. No mutation was detected in exon 1 of the myophosphorylase gene. No psychomotor development was observed, and the infant died of central apnea at 3 months of age.


Subject(s)
Glycogen Storage Disease/genetics , Infant, Premature, Diseases/genetics , Phosphorylase Kinase/deficiency , Adult , Biopsy , Fatal Outcome , Female , Glycogen Storage Disease/diagnosis , Glycogen Storage Disease/pathology , Humans , Infant , Infant, Newborn , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/pathology , Microscopy, Electron , Muscle Hypotonia/diagnosis , Muscle Hypotonia/genetics , Muscle Hypotonia/pathology , Muscle, Skeletal/pathology , Phosphorylase Kinase/genetics , Pregnancy
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